orphanet.txt

Ensembl_gene_id	Orphanet	
ENSG00000000419	dolichyl-phosphate mannosyltransferase subunit 1, catalytic
ENSG00000000971	ATP binding cassette subfamily A member 4,Atypical hemolytic uremic syndrome with complement gene abnormality,CD46 molecule,complement factor H,complement factor I,complement factor I,Dense deposit disease,Immunoglobulin-mediated membranoproliferative glomerulonephritis
ENSG00000001084	glutamate-cysteine ligase catalytic subunit,serpin family A member 1
ENSG00000001497	histone deacetylase 8,LAS1 like ribosome biogenesis factor
ENSG00000001626	adhesion G protein-coupled receptor G2,calcium sensing receptor,CF transmembrane conductance regulator,CF transmembrane conductance regulator,serpin family A member 1,sperm associated antigen 17
ENSG00000001630	cytochrome P450 family 51 subfamily A member 1
ENSG00000001631	CCM2 scaffold protein
ENSG00000003137	cytochrome P450 family 26 subfamily B member 1
ENSG00000003393	alsin Rho guanine nucleotide exchange factor ALS2,alsin Rho guanine nucleotide exchange factor ALS2,alsin Rho guanine nucleotide exchange factor ALS2
ENSG00000003400	caspase 10
ENSG00000004399	NK2 homeobox 6,plexin D1
ENSG00000004455	adenylate kinase 2
ENSG00000004487	lysine demethylase 1A
ENSG00000004838	dynein axonemal heavy chain 1
ENSG00000004848	aristaless related homeobox,aristaless related homeobox,aristaless related homeobox,aristaless related homeobox,aristaless related homeobox,Dmx like 2,neurotrophic receptor tyrosine kinase 2,X-linked non-syndromic intellectual disability
ENSG00000004864	solute carrier family 25 member 13,solute carrier family 25 member 13
ENSG00000004939	Autosomal dominant distal renal tubular acidosis,Distal renal tubular acidosis with anemia,solute carrier family 4 member 1 (Diego blood group),solute carrier family 4 member 1 (Diego blood group),solute carrier family 4 member 1 (Diego blood group),solute carrier family 4 member 1 (Diego blood group)
ENSG00000004961	holocytochrome c synthase
ENSG00000005073	MDS1 and EVI1 complex locus
ENSG00000005102	growth differentiation factor 3
ENSG00000005156	DNA polymerase gamma, catalytic subunit
ENSG00000005339	CREB binding protein,CREB binding protein,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,Rubinstein-Taybi syndrome due to CREBBP mutations
ENSG00000005379	tyrosine hydroxylase
ENSG00000005381	myeloperoxidase
ENSG00000005421	cyclin F
ENSG00000005471	ATP binding cassette subfamily B member 4,nuclear receptor subfamily 1 group H member 4,Progressive familial intrahepatic cholestasis type 3
ENSG00000005483	zinc finger MIZ-type containing 1
ENSG00000005884	integrin subunit alpha 3
ENSG00000005893	lysosomal associated membrane protein 2
ENSG00000005961	glycoprotein Ib platelet subunit alpha,integrin subunit alpha 2b,tubulin alpha 8
ENSG00000006016	cytokine receptor like factor 1,cytokine receptor like factor 1,kelch like family member 7
ENSG00000006042	membrane frizzled-related protein
ENSG00000006062	mitogen-activated protein kinase kinase kinase 14
ENSG00000006071	ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,signal transducer and activator of transcription 3
ENSG00000006283	calcium voltage-gated channel subunit alpha1 G
ENSG00000006377	distal-less homeobox 6
ENSG00000006468	ETS transcription factor ERG
ENSG00000006530	Total early-onset cataract,triokinase and FMN cyclase
ENSG00000006611	Disease-causing germline mutation(s) in,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000006638	thromboxane A2 receptor
ENSG00000006652	interferon related developmental regulator 1
ENSG00000006695	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000006704	syntaxin 1A
ENSG00000006715	VPS41 subunit of HOPS complex
ENSG00000006744	cadherin 1,elaC ribonuclease Z 2
ENSG00000007062	cyclic nucleotide gated channel subunit beta 3,prominin 1,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000007168	doublecortin,HIC ZBTB transcriptional repressor 1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,platelet activating factor acetylhydrolase 1b regulatory subunit 1
ENSG00000007174	ankyrin repeat and sterile alpha motif domain containing 3,dynein axonemal heavy chain 1,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000007312	Autosomal agammaglobulinemia
ENSG00000007314	Postsynaptic congenital myasthenic syndromes,sodium voltage-gated channel alpha subunit 4,sodium voltage-gated channel alpha subunit 4,sodium voltage-gated channel alpha subunit 4,sodium voltage-gated channel alpha subunit 4,sodium voltage-gated channel alpha subunit 4,sodium voltage-gated channel alpha subunit 4
ENSG00000007372	actin gamma 1,actin gamma 1,brain derived neurotrophic factor,forkhead box C1,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,inositol 1,4,5-trisphosphate receptor type 1,paired box 6,paired box 6,paired box 6,paired box 6
ENSG00000007541	Dmx like 2
ENSG00000007933	flavin containing dimethylaniline monoxygenase 3,flavin containing dimethylaniline monoxygenase 3
ENSG00000007944	microsomal triglyceride transfer protein
ENSG00000008056	synapsin I
ENSG00000008083	zinc finger MIZ-type containing 1
ENSG00000008086	cyclin dependent kinase like 5,Dmx like 2,methyl-CpG binding protein 2,neurotrophic receptor tyrosine kinase 2
ENSG00000008196	transcription factor AP-2 beta,transcription factor AP-2 beta
ENSG00000008226	WW domain containing oxidoreductase
ENSG00000008311	aminoadipate-semialdehyde synthase,aminoadipate-semialdehyde synthase
ENSG00000008441	nuclear factor I X,nuclear factor I X,nuclear factor I X
ENSG00000008710	glucosidase II alpha subunit,TSC complex subunit 2
ENSG00000008988	bone morphogenetic protein receptor type 1A,ribosomal protein L18
ENSG00000009413	plexin D1
ENSG00000009694	teneurin transmembrane protein 1
ENSG00000009709	Alveolar rhabdomyosarcoma
ENSG00000009724	MBL associated serine protease 2
ENSG00000009765	solute carrier family 5 member 5
ENSG00000009830	CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1,protein O-mannosyltransferase 2
ENSG00000009950	syntaxin 1A
ENSG00000009954	syntaxin 1A
ENSG00000010072	SprT-like N-terminal domain
ENSG00000010361	fuzzy planar cell polarity protein,VANGL planar cell polarity protein 1
ENSG00000010404	Mucopolysaccharidosis type 2, attenuated form,Mucopolysaccharidosis type 2, severe form
ENSG00000010671	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,X-linked agammaglobulinemia
ENSG00000010704	Familial porphyria cutanea tarda,homeostatic iron regulator,homeostatic iron regulator,homeostatic iron regulator,serpin family A member 1,Sporadic porphyria cutanea tarda
ENSG00000010818	Autosomal dominant non-syndromic intellectual disability
ENSG00000011021	chloride voltage-gated channel 6
ENSG00000011143	Abelson helper integration site 1,Bardet-Biedl syndrome 1,centrosomal protein 120,thioredoxin domain containing 15
ENSG00000011198	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ENSG00000011201	Kallmann syndrome
ENSG00000011275	patatin like phospholipase domain containing 6
ENSG00000011295	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000011376	leucyl-tRNA synthetase 2, mitochondrial,Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000011405	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
ENSG00000011426	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000011465	decorin
ENSG00000011600	triggering receptor expressed on myeloid cells 2
ENSG00000011677	calcium voltage-gated channel subunit alpha1 S
ENSG00000012048	BRCA1 DNA repair associated,BRCA1 DNA repair associated,BRCA1 DNA repair associated,cadherin 1,cadherin 1,phosphatase and tensin homolog,RAD51 recombinase
ENSG00000012061	Cockayne syndrome type 2,COFS syndrome
ENSG00000012174	membrane bound transcription factor peptidase, site 2,membrane bound transcription factor peptidase, site 2,membrane bound transcription factor peptidase, site 2,Osteogenesis imperfecta type 1,p53 apoptosis effector related to PMP22
ENSG00000012232	exostosin like glycosyltransferase 3
ENSG00000012504	nuclear receptor subfamily 1 group H member 4,Progressive familial intrahepatic cholestasis type 5
ENSG00000012660	ELOVL fatty acid elongase 5
ENSG00000012963	zinc finger MIZ-type containing 1
ENSG00000013293	S-phase cyclin A associated protein in the ER
ENSG00000013375	phosphoglucomutase 3,zinc finger protein 341
ENSG00000013503	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,RNA polymerase III subunit B
ENSG00000013573	DEAD/H-box helicase 11
ENSG00000013619	androgen receptor,mastermind like domain containing 1
ENSG00000013810	Giant cell glioblastoma,Gliosarcoma
ENSG00000014216	calpain 1
ENSG00000014824	solute carrier family 30 member 9
ENSG00000014919	synthesis of cytochrome C oxidase 1
ENSG00000015133	coiled-coil domain containing 88C,Congenital non-communicating hydrocephalus
ENSG00000015171	Autosomal dominant non-syndromic intellectual disability
ENSG00000015285	WASP actin nucleation promoting factor,WASP actin nucleation promoting factor,X-linked thrombocytopenia with normal platelets
ENSG00000015479	cyclin F,matrin 3
ENSG00000015520	microsomal triglyceride transfer protein
ENSG00000015532	xylosyltransferase 2
ENSG00000016082	Bladder exstrophy
ENSG00000016602	serpin family A member 1
ENSG00000016864	cyclin F
ENSG00000017260	ATPase secretory pathway Ca2+ transporting 1
ENSG00000017427	insulin like growth factor 1
ENSG00000018236	contactin 1
ENSG00000018280	serpin family A member 1,Tuberculosis
ENSG00000018408	transcription factor binding to IGHM enhancer 3
ENSG00000018510	Rhizomelic chondrodysplasia punctata type 3
ENSG00000018610	X-linked non-syndromic intellectual disability
ENSG00000018625	actin like 6B,calcium voltage-gated channel subunit alpha1 A,sodium voltage-gated channel alpha subunit 1
ENSG00000019186	cytochrome P450 family 24 subfamily A member 1
ENSG00000019549	snail family transcriptional repressor 2,Waardenburg syndrome type 2
ENSG00000019991	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000020129	Autosomal recessive non-syndromic intellectual disability
ENSG00000020922	MRE11 homolog, double strand break repair nuclease,MRE11 homolog, double strand break repair nuclease,phosphatase and tensin homolog
ENSG00000021488	Cystinuria type B
ENSG00000021574	spastin
ENSG00000021826	carbamoyl-phosphate synthase 1
ENSG00000021852	complement C5
ENSG00000022267	filamin C,four and a half LIM domains 1,four and a half LIM domains 1,four and a half LIM domains 1,X-linked Emery-Dreifuss muscular dystrophy
ENSG00000022355	ciliogenesis associated kinase 1,gamma-aminobutyric acid type A receptor subunit alpha1,sodium voltage-gated channel alpha subunit 1
ENSG00000023228	transmembrane protein 126B
ENSG00000023445	MALT1 paracaspase
ENSG00000023839	ATP binding cassette subfamily C member 2
ENSG00000025708	DNA polymerase gamma, catalytic subunit
ENSG00000025796	protein kinase C substrate 80K-H
ENSG00000026025	Pulverulent cataract
ENSG00000026103	caspase 10,caspase 10,Fas cell surface death receptor,interleukin 10
ENSG00000026297	NADH:ubiquinone oxidoreductase subunit A2
ENSG00000027001	mitochondrial intermediate peptidase
ENSG00000027697	interferon gamma receptor 1,interferon gamma receptor 1,interferon gamma receptor 1,interleukin 10
ENSG00000027847	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ENSG00000028137	cytotoxic T-lymphocyte associated protein 4,cytotoxic T-lymphocyte associated protein 4
ENSG00000029534	ankyrin 1,solute carrier family 4 member 1 (Diego blood group)
ENSG00000029639	Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000030066	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000030304	Postsynaptic congenital myasthenic syndromes,solute carrier family 18 member A3
ENSG00000030582	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8,presenilin 1,transmembrane protein 106B,transmembrane protein 106B
ENSG00000031081	notch receptor 1
ENSG00000031698	Autosomal recessive non-syndromic intellectual disability,Autosomal recessive primary microcephaly
ENSG00000032444	patatin like phospholipase domain containing 6,patatin like phospholipase domain containing 6,patatin like phospholipase domain containing 6,patatin like phospholipase domain containing 6,patatin like phospholipase domain containing 6
ENSG00000032742	S-phase cyclin A associated protein in the ER
ENSG00000033011	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
ENSG00000034693	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000034971	cytochrome P450 family 1 subfamily B member 1,cytochrome P450 family 1 subfamily B member 1
ENSG00000035403	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000035720	signal transducing adaptor family member 1
ENSG00000035928	replication factor C subunit 1
ENSG00000036257	Pseudohypoaldosteronism type 2E
ENSG00000036473	ornithine transcarbamylase
ENSG00000036828	Autosomal dominant hypocalcemia,calcium sensing receptor,Familial hypocalciuric hypercalcemia type 1,transient receptor potential cation channel subfamily V member 6
ENSG00000037280	angiopoietin 2,fms related receptor tyrosine kinase 4,kinase insert domain receptor
ENSG00000037474	Autosomal recessive non-syndromic intellectual disability,DNA ligase 4
ENSG00000038002	aspartylglucosaminidase
ENSG00000038295	Atrial septal defect, ostium primum type,Atrial septal defect, ostium secundum type
ENSG00000038382	trio Rho guanine nucleotide exchange factor
ENSG00000038427	versican
ENSG00000038945	cadherin 1
ENSG00000039068	cadherin 1,cadherin 1,cadherin 1,catenin delta 1,Rho GTPase activating protein 29
ENSG00000039139	dynein axonemal heavy chain 1
ENSG00000039537	complement C5
ENSG00000039650	Dmx like 2,polynucleotide kinase 3'-phosphatase,polynucleotide kinase 3'-phosphatase
ENSG00000040531	Infantile nephropathic cystinosis,Juvenile nephropathic cystinosis,Ocular cystinosis
ENSG00000041982	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000042088	tyrosyl-DNA phosphodiesterase 1
ENSG00000042317	retinoid isomerohydrolase RPE65,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000042429	mediator complex subunit 17
ENSG00000042753	Familial hypocalciuric hypercalcemia type 3
ENSG00000042781	S-phase cyclin A associated protein in the ER,Usher syndrome type 2
ENSG00000042813	Male infertility due to globozoospermia
ENSG00000042832	solute carrier family 5 member 5
ENSG00000043355	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000044090	cullin 7
ENSG00000044115	cadherin 1,peripherin 2
ENSG00000044446	phosphorylase kinase regulatory subunit alpha 2
ENSG00000046604	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000046651	centrosomal protein 120,dynein axonemal heavy chain 1,family with sequence similarity 149 member B1,OFD1 centriole and centriolar satellite protein,S-phase cyclin A associated protein in the ER
ENSG00000047410	Autosomal recessive non-syndromic intellectual disability,eukaryotic translation initiation factor 1A X-linked
ENSG00000047457	ceruloplasmin
ENSG00000047578	centrosomal protein 120
ENSG00000047579	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ENSG00000047597	X-linked Kx blood group antigen, Kell and VPS13A binding protein
ENSG00000047621	Autosomal recessive non-syndromic intellectual disability
ENSG00000047932	Male infertility due to globozoospermia
ENSG00000048342	centrosomal protein 290,S-phase cyclin A associated protein in the ER,thioredoxin domain containing 15,transmembrane protein 67
ENSG00000048392	DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,mitochondrially encoded ATP synthase membrane subunit 8,ribonucleotide reductase regulatory TP53 inducible subunit M2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B
ENSG00000048545	guanylate cyclase activator 1A,phosphodiesterase 6C,retinitis pigmentosa GTPase regulator
ENSG00000048707	VPS41 subunit of HOPS complex
ENSG00000048740	actin like 6B
ENSG00000049089	Autosomal recessive Stickler syndrome,collagen type IX alpha 1 chain
ENSG00000049130	KIT ligand,KIT ligand,KIT ligand,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Waardenburg syndrome type 2
ENSG00000049167	Cockayne syndrome type 1,Cockayne syndrome type 2,Cockayne syndrome type 3,ERCC excision repair 6, chromatin remodeling factor
ENSG00000049239	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
ENSG00000049246	period circadian regulator 3
ENSG00000049323	EGF containing fibulin extracellular matrix protein 2
ENSG00000049540	aldehyde dehydrogenase 18 family member A1,elastin,forkhead box E3,syntaxin 1A
ENSG00000049541	syntaxin 1A
ENSG00000049618	AT-rich interaction domain 1B,AT-rich interaction domain 2
ENSG00000049759	Periventricular nodular heterotopia
ENSG00000049768	forkhead box P3
ENSG00000049860	Sandhoff disease, adult form,Sandhoff disease, infantile form,Sandhoff disease, juvenile form
ENSG00000050030	neurite extension and migration factor,solute carrier family 2 member 1
ENSG00000050555	laminin subunit gamma 3
ENSG00000051180	dynein axonemal light chain 4,phosphatase and tensin homolog,RAD51 recombinase
ENSG00000051523	cytochrome b-245 beta chain
ENSG00000052802	methylsterol monooxygenase 1
ENSG00000052850	ALX homeobox 4,ALX homeobox 4,ALX homeobox 4,ALX homeobox 4
ENSG00000053747	collagen type XVII alpha 1 chain,laminin subunit alpha 3,laminin subunit beta 3
ENSG00000053918	ATP binding cassette subfamily C member 9,potassium voltage-gated channel subfamily E regulatory subunit 1,solute carrier family 4 member 3,triadin
ENSG00000054282	Bardet-Biedl syndrome 1,centrosomal protein 290
ENSG00000054392	hedgehog acyltransferase
ENSG00000054523	kinesin family member 1B,solute carrier family 25 member 11
ENSG00000054598	forkhead box C1,paired box 6,paired like homeodomain 2,paired like homeodomain 2,paired like homeodomain 2
ENSG00000054654	Autosomal dominant Emery-Dreifuss muscular dystrophy
ENSG00000054793	zinc finger MIZ-type containing 1
ENSG00000054967	Hypoplastic amelogenesis imperfecta
ENSG00000054983	Adult Krabbe disease,Infantile Krabbe disease,Late-infantile/juvenile Krabbe disease
ENSG00000055118	solute carrier family 4 member 3,triadin
ENSG00000055163	actin like 6B
ENSG00000055208	TGF-beta activated kinase 1 (MAP3K7) binding protein 2,TGF-beta activated kinase 1 (MAP3K7) binding protein 2
ENSG00000055332	torsin family 1 member A
ENSG00000055609	Kleefstra syndrome due to a point mutation
ENSG00000056097	zinc finger RNA binding protein
ENSG00000056972	C-type lectin domain containing 7A
ENSG00000057294	hyperpolarization activated cyclic nucleotide gated potassium channel 4,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,pleckstrin homology and RUN domain containing M2
ENSG00000057468	nuclear receptor subfamily 5 group A member 1
ENSG00000057593	coagulation factor VII
ENSG00000058085	collagen type XVII alpha 1 chain,laminin subunit beta 3
ENSG00000058404	Autosomal dominant non-syndromic intellectual disability
ENSG00000059377	thromboxane A synthase 1
ENSG00000059573	aldehyde dehydrogenase 18 family member A1,aldehyde dehydrogenase 18 family member A1,aldehyde dehydrogenase 18 family member A1,aldehyde dehydrogenase 18 family member A1,ALDH18A1-related De Barsy syndrome
ENSG00000059804	huntingtin
ENSG00000060069	CTD phosphatase subunit 1
ENSG00000060237	Pseudohypoaldosteronism type 2C,sodium voltage-gated channel alpha subunit 9
ENSG00000060566	glycerol-3-phosphate dehydrogenase 1
ENSG00000060642	phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000060718	collagen type XI alpha 1 chain,collagen type XI alpha 1 chain,collagen type XI alpha 1 chain,Stickler syndrome type 2
ENSG00000060762	mitochondrial pyruvate carrier 1
ENSG00000061455	transcription factor AP-2 beta
ENSG00000061938	tyrosine kinase non receptor 2
ENSG00000062038	cadherin 3,cadherin 3
ENSG00000062282	diacylglycerol O-acyltransferase 2
ENSG00000062598	engulfment and cell motility 2,engulfment and cell motility 2
ENSG00000062822	bone morphogenetic protein receptor type 1A,DNA polymerase delta 1, catalytic subunit,Polymerase proofreading-related adenomatous polyposis
ENSG00000063177	ribosomal protein L18
ENSG00000064012	axin 1,caspase 8
ENSG00000064195	distal-less homeobox 3,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
ENSG00000064218	DEAH-box helicase 37
ENSG00000064309	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly,WD repeat domain 11
ENSG00000064313	TATA-box binding protein associated factor 2
ENSG00000064419	interleukin 12 receptor subunit beta 1,transportin 3
ENSG00000064490	regulatory factor X5
ENSG00000064601	cathepsin A,cathepsin A
ENSG00000064651	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
ENSG00000064687	ATP binding cassette subfamily A member 7,sortilin related receptor 1
ENSG00000064835	forkhead box A2,Isolated growth hormone deficiency type II,POU class 1 homeobox 1
ENSG00000064933	mutS homolog 6
ENSG00000064989	Non-immune hydrops fetalis
ENSG00000065000	adaptor related protein complex 3 subunit delta 1,adaptor related protein complex 3 subunit delta 1
ENSG00000065057	NTHL1-related attenuated familial adenomatous polyposis
ENSG00000065135	G protein subunit alpha i3
ENSG00000065154	ornithine aminotransferase
ENSG00000065320	dynein axonemal light chain 4
ENSG00000065361	ATPase copper transporting alpha,erb-b2 receptor tyrosine kinase 3
ENSG00000065427	lysyl-tRNA synthetase 1,lysyl-tRNA synthetase 1,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000065526	arginine-glutamic acid dipeptide repeats,arginine-glutamic acid dipeptide repeats
ENSG00000065534	forkhead box E3,leiomodin 1
ENSG00000065618	collagen type XVII alpha 1 chain,collagen type XVII alpha 1 chain,collagen type XVII alpha 1 chain,collagen type XVII alpha 1 chain
ENSG00000065883	cyclin dependent kinase 13
ENSG00000065923	X-linked non-syndromic intellectual disability
ENSG00000066117	AT-rich interaction domain 2
ENSG00000066230	guanylate cyclase 2C,serpin family A member 1
ENSG00000066279	Autosomal recessive primary microcephaly
ENSG00000066336	Autosomal agammaglobulinemia
ENSG00000066427	Machado-Joseph disease type 1,Machado-Joseph disease type 2,Machado-Joseph disease type 3
ENSG00000066455	eukaryotic translation initiation factor 1A X-linked
ENSG00000066468	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,fibroblast growth factor 10,fibroblast growth factor receptor 2,fibroblast growth factor receptor 2,fibroblast growth factor receptor 2,fibroblast growth factor receptor 2,fibroblast growth factor receptor 2,fibroblast growth factor receptor 2,fibroblast growth factor receptor 3,Pfeiffer syndrome type 1,Pfeiffer syndrome type 2,Pfeiffer syndrome type 3
ENSG00000066629	doublecortin
ENSG00000066923	inhibin subunit alpha,sperm associated antigen 17
ENSG00000066926	ferrochelatase
ENSG00000066933	Presynaptic congenital myasthenic syndromes
ENSG00000067048	Role in the phenotype of
ENSG00000067177	phosphorylase kinase regulatory subunit alpha 1
ENSG00000067182	MEFV innate immunity regulator, pyrin,TNF receptor superfamily member 1A,TNF receptor superfamily member 1A
ENSG00000067560	ras homolog family member A
ENSG00000067606	arginine-glutamic acid dipeptide repeats
ENSG00000067704	isoleucyl-tRNA synthetase 2, mitochondrial
ENSG00000067715	synaptotagmin 1
ENSG00000067836	solute carrier family 13 member 5
ENSG00000067842	ATPase plasma membrane Ca2+ transporting 3,potassium inwardly rectifying channel subfamily J member 5
ENSG00000067955	fms related receptor tyrosine kinase 3
ENSG00000067992	pyruvate dehydrogenase kinase 3
ENSG00000068001	hyaluronidase 2
ENSG00000068024	histone deacetylase 4
ENSG00000068078	fibroblast growth factor 10,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3,Giant cell glioblastoma,Gliosarcoma,Thanatophoric dysplasia type 1,Thanatophoric dysplasia type 2
ENSG00000068120	Coenzyme A synthase
ENSG00000068305	LDL receptor related protein 6
ENSG00000068308	zinc finger MIZ-type containing 1
ENSG00000068323	proline rich mitotic checkpoint control factor,transcription factor binding to IGHM enhancer 3,transcription factor binding to IGHM enhancer 3
ENSG00000068366	potassium voltage-gated channel subfamily E regulatory subunit 5,X-linked non-syndromic intellectual disability
ENSG00000068394	G-patch domain and KOW motifs
ENSG00000068438	X-linked non-syndromic intellectual disability
ENSG00000068615	receptor accessory protein 1,receptor accessory protein 1
ENSG00000068650	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,surfactant protein A1
ENSG00000068654	RNA polymerase I subunit A
ENSG00000068724	tetratricopeptide repeat domain 7A,tetratricopeptide repeat domain 7A
ENSG00000068831	RAS guanyl releasing protein 2
ENSG00000068885	intraflagellar transport 80,intraflagellar transport 80,KIAA0753
ENSG00000068976	glycogen phosphorylase, muscle associated
ENSG00000069011	Familial clubfoot due to 5q31 microdeletion,Familial clubfoot due to PITX1 point mutation,macroH2A.1 histone,paired like homeodomain 1
ENSG00000069248	membrane associated guanylate kinase, WW and PDZ domain containing 2,O-sialoglycoprotein endopeptidase
ENSG00000069329	synuclein alpha
ENSG00000069424	arginine-glutamic acid dipeptide repeats
ENSG00000069431	ATP binding cassette subfamily C member 9,ATP binding cassette subfamily C member 9,hyperpolarization activated cyclic nucleotide gated potassium channel 4,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000069702	angiopoietin like 6
ENSG00000069966	G protein subunit beta 5
ENSG00000069974	Griscelli syndrome type 2
ENSG00000070010	T-box transcription factor 1
ENSG00000070018	LDL receptor related protein 6,small ubiquitin like modifier 1
ENSG00000070019	guanylate cyclase 2C,guanylate cyclase 2C,guanylate cyclase 2C
ENSG00000070061	elongator complex protein 1
ENSG00000070159	BRCA1 DNA repair associated
ENSG00000070182	solute carrier family 4 member 1 (Diego blood group),spectrin alpha, erythrocytic 1
ENSG00000070193	fibroblast growth factor 10,fibroblast growth factor 10
ENSG00000070371	clathrin heavy chain like 1
ENSG00000070610	glucosylceramidase beta 2,glucosylceramidase beta 2
ENSG00000070614	Autosomal recessive non-syndromic intellectual disability
ENSG00000070669	asparagine synthetase (glutamine-hydrolyzing)
ENSG00000070729	S-phase cyclin A associated protein in the ER
ENSG00000070748	Presynaptic congenital myasthenic syndromes
ENSG00000070785	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000070808	Autosomal dominant non-syndromic intellectual disability
ENSG00000070814	RNA polymerase I subunit B
ENSG00000070831	cell division cycle 42,cell division cycle 42
ENSG00000070915	solute carrier family 12 member 3
ENSG00000070961	zinc finger MIZ-type containing 1
ENSG00000071082	ribosomal protein L18
ENSG00000071127	WD repeat domain 1
ENSG00000071462	syntaxin 1A
ENSG00000071539	BRCA2 DNA repair associated,thyroid hormone receptor interactor 13
ENSG00000071564	Autosomal agammaglobulinemia,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),B-lymphoblastic leukemia/lymphoma with t(17;19)
ENSG00000071859	zinc finger MIZ-type containing 1
ENSG00000072042	retinol dehydrogenase 11
ENSG00000072062	DnaJ heat shock protein family (Hsp40) member B1,dynein cytoplasmic 2 light intermediate chain 1
ENSG00000072071	zinc finger MIZ-type containing 1
ENSG00000072110	tubulin alpha 8
ENSG00000072121	zinc finger FYVE-type containing 26
ENSG00000072195	titin
ENSG00000072210	aldehyde dehydrogenase 3 family member A2
ENSG00000072274	transferrin receptor
ENSG00000072310	ATPase copper transporting alpha
ENSG00000072364	ALF transcription elongation factor 4
ENSG00000072415	zinc finger MIZ-type containing 1
ENSG00000072501	methyl-CpG binding protein 2,Semilobar holoprosencephaly,structural maintenance of chromosomes 1A
ENSG00000072506	HSD10 disease, atypical type,HSD10 disease, infantile type,HSD10 disease, neonatal type
ENSG00000072682	protein tyrosine phosphatase non-receptor type 22
ENSG00000072694	PX domain containing serine/threonine kinase like
ENSG00000072756	tRNA nucleotidyl transferase 1
ENSG00000072778	acyl-CoA dehydrogenase very long chain
ENSG00000072803	zinc finger MIZ-type containing 1
ENSG00000072840	dynein cytoplasmic 2 light intermediate chain 1,EvC ciliary complex subunit 1
ENSG00000072864	Lissencephaly syndrome, Norman-Roberts type,nudE neurodevelopment protein 1,nudE neurodevelopment protein 1
ENSG00000073111	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000073146	sperm associated antigen 17
ENSG00000073282	Ankyloblepharon filiforme adnatum-cleft palate syndrome,Bladder exstrophy,distal-less homeobox 6,msh homeobox 1,Rho GTPase activating protein 29,tumor protein p63,tumor protein p63,tumor protein p63,tumor protein p63
ENSG00000073331	alpha kinase 1
ENSG00000073464	chloride voltage-gated channel 4,X-linked non-syndromic intellectual disability
ENSG00000073578	solute carrier family 25 member 11,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex flavoprotein subunit A,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000073584	AT-rich interaction domain 2,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000073734	Benign recurrent intrahepatic cholestasis type 2,nuclear receptor subfamily 1 group H member 4,Progressive familial intrahepatic cholestasis type 2
ENSG00000073921	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000074047	Alobar holoprosencephaly,fibroblast growth factor receptor 1,forkhead box A2,GLI family zinc finger 2,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000074181	notch receptor 3,notch receptor 3,notch receptor 3
ENSG00000074266	embryonic ectoderm development
ENSG00000074317	glucosylceramidase beta 1
ENSG00000074410	carbonic anhydrase 12
ENSG00000074582	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone,BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone,BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone,BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000074621	rhodopsin
ENSG00000074695	multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
ENSG00000075043	Autosomal dominant non-syndromic intellectual disability,potassium voltage-gated channel subfamily Q member 2,potassium voltage-gated channel subfamily Q member 2,sodium voltage-gated channel alpha subunit 2,sodium voltage-gated channel alpha subunit 2,sodium voltage-gated channel alpha subunit 8
ENSG00000075188	Autosomal recessive primary microcephaly,membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000075213	hyperpolarization activated cyclic nucleotide gated potassium channel 4,Kallmann syndrome
ENSG00000075223	ATPase copper transporting alpha
ENSG00000075239	acetyl-CoA acetyltransferase 1
ENSG00000075415	solute carrier family 25 member 3
ENSG00000075624	actin beta,actin beta,actin beta
ENSG00000075643	Xanthinuria type II
ENSG00000075702	Autosomal recessive primary microcephaly
ENSG00000075711	Rho GTPase activating protein 29
ENSG00000075785	RAB7A, member RAS oncogene family
ENSG00000075891	membrane associated guanylate kinase, WW and PDZ domain containing 2,paired box 2,Renal hypoplasia, bilateral
ENSG00000076003	lactase
ENSG00000076201	zinc finger MIZ-type containing 1
ENSG00000076242	mutS homolog 6,PMS1 homolog 2, mismatch repair system component
ENSG00000076248	Hyper-IgM syndrome type 5
ENSG00000076351	solute carrier family 46 member 1
ENSG00000076685	5'-nucleotidase, cytosolic II
ENSG00000076716	glypican 3,glypican 4
ENSG00000076944	perforin 1
ENSG00000077080	actin like 6B,zinc finger MIZ-type containing 1
ENSG00000077092	signaling receptor and transporter of retinol STRA6
ENSG00000077097	DNA topoisomerase II beta
ENSG00000077150	CD19 molecule,nuclear factor kappa B subunit 2
ENSG00000077152	RAD51 recombinase
ENSG00000077264	X-linked non-syndromic intellectual disability
ENSG00000077279	doublecortin,doublecortin
ENSG00000077348	exosome component 5
ENSG00000077463	sirtuin 6
ENSG00000077498	Minimal pigment oculocutaneous albinism type 1,Oculocutaneous albinism type 1A,Oculocutaneous albinism type 1B,Temperature-sensitive oculocutaneous albinism type 1,Waardenburg syndrome type 2
ENSG00000077522	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000077721	ubiquitin conjugating enzyme E2 A
ENSG00000077782	fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,fibroblast growth factor receptor 1,Giant cell glioblastoma,Gliosarcoma,Kallmann syndrome,Lobar holoprosencephaly,Normosmic congenital hypogonadotropic hypogonadism,Pfeiffer syndrome type 1,Pilomyxoid astrocytoma,prokineticin receptor 2,Semilobar holoprosencephaly,small ubiquitin like modifier 1
ENSG00000077800	syntaxin 1A
ENSG00000077942	fibulin 1,Synpolydactyly type 2
ENSG00000077943	Renal agenesis, bilateral
ENSG00000078070	methylcrotonyl-CoA carboxylase subunit 1
ENSG00000078114	filamin C
ENSG00000078124	alkaline ceramidase 3
ENSG00000078369	G protein subunit beta 1
ENSG00000078401	G protein subunit alpha i3
ENSG00000078403	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000078579	Renal agenesis, bilateral
ENSG00000078596	fibroblast growth factor receptor 1
ENSG00000078674	eukaryotic translation initiation factor 1A X-linked
ENSG00000078747	itchy E3 ubiquitin protein ligase
ENSG00000078814	pleckstrin homology and RUN domain containing M2
ENSG00000078900	RB transcriptional corepressor 1
ENSG00000079102	RUNX family transcription factor 1
ENSG00000079215	calcium voltage-gated channel subunit alpha1 A,solute carrier family 1 member 3
ENSG00000079335	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000079432	Autosomal dominant non-syndromic intellectual disability
ENSG00000079435	lipase E, hormone sensitive type
ENSG00000079482	oligophrenin 1
ENSG00000079616	kinesin family member 22
ENSG00000079739	phosphoglucomutase 1
ENSG00000079805	dynamin 2,dynamin 2,dynamin 2,ryanodine receptor 1
ENSG00000079841	retinitis pigmentosa GTPase regulator
ENSG00000079999	kelch like ECH associated protein 1
ENSG00000080166	dopachrome tautomerase
ENSG00000080493	Autosomal recessive proximal renal tubular acidosis
ENSG00000080503	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ENSG00000080561	X-linked non-syndromic intellectual disability
ENSG00000080572	dynein axonemal heavy chain 1
ENSG00000080603	Snf2 related CREBBP activator protein,zinc finger MIZ-type containing 1
ENSG00000080815	ATP binding cassette subfamily A member 7,presenilin 1,presenilin 1,TATA-box binding protein associated factor, RNA polymerase I subunit A,transmembrane protein 106B,transmembrane protein 106B
ENSG00000080819	coproporphyrinogen oxidase
ENSG00000080910	C3 glomerulonephritis
ENSG00000081014	adaptor related protein complex 4 subunit mu 1
ENSG00000081051	alpha fetoprotein,alpha fetoprotein
ENSG00000081052	Autosomal dominant Alport syndrome,Autosomal recessive Alport syndrome,collagen type IV alpha 3 chain,Digenic Alport syndrome
ENSG00000081087	osteoclastogenesis associated transmembrane protein 1
ENSG00000081148	peripherin 2,S-phase cyclin A associated protein in the ER
ENSG00000081189	Complete atrioventricular septal defect without ventricular hypoplasia,myocyte enhancer factor 2C
ENSG00000081237	protein tyrosine phosphatase receptor type C
ENSG00000081248	calcium voltage-gated channel subunit alpha1 S,calcium voltage-gated channel subunit alpha1 S,calcium voltage-gated channel subunit alpha1 S,sodium voltage-gated channel alpha subunit 4
ENSG00000081277	plakophilin 1
ENSG00000081307	actin like 6B
ENSG00000081479	LDL receptor related protein 2
ENSG00000081923	Benign recurrent intrahepatic cholestasis type 1,nuclear receptor subfamily 1 group H member 4,Progressive familial intrahepatic cholestasis type 1
ENSG00000082074	FYN binding protein 1
ENSG00000082438	Rho GTPase activating protein 29
ENSG00000082458	X-linked non-syndromic intellectual disability
ENSG00000082516	Autosomal recessive non-syndromic intellectual disability
ENSG00000082805	ELKS/RAB6-interacting/CAST family member 1,eukaryotic translation initiation factor 1A X-linked
ENSG00000082898	BCL6 transcription repressor
ENSG00000082996	ring finger protein 13
ENSG00000083067	Autosomal dominant non-syndromic intellectual disability
ENSG00000083093	BRCA1 DNA repair associated,cadherin 1,partner and localizer of BRCA2,phosphatase and tensin homolog,RAD51 recombinase
ENSG00000083123	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000083168	CREB binding protein,lysine acetyltransferase 6A
ENSG00000083307	grainyhead like transcription factor 2,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,visual system homeobox 1
ENSG00000083444	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
ENSG00000083535	centrosomal protein 120
ENSG00000083720	3-oxoacid CoA-transferase 1
ENSG00000083799	Familial cylindromatosis,Familial multiple trichoepithelioma
ENSG00000083807	solute carrier family 27 member 5
ENSG00000083937	cyclin F,presenilin 1,transmembrane protein 106B,transmembrane protein 106B
ENSG00000084073	Mandibuloacral dysplasia with type B lipodystrophy,zinc metallopeptidase STE24,zinc metallopeptidase STE24
ENSG00000084093	BRCA2 DNA repair associated,Candidate gene tested in
ENSG00000084110	histidine ammonia-lyase
ENSG00000084674	ATP binding cassette subfamily G member 5,microsomal triglyceride transfer protein,signal transducing adaptor family member 1
ENSG00000084693	S-phase cyclin A associated protein in the ER
ENSG00000084754	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ENSG00000084774	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ENSG00000085063	CD59 molecule (CD59 blood group)
ENSG00000085185	zinc finger MIZ-type containing 1
ENSG00000085224	ATRX chromatin remodeler,ATRX chromatin remodeler,ATRX chromatin remodeler,cadherin related 23
ENSG00000085276	MDS1 and EVI1 complex locus,MDS1 and EVI1 complex locus
ENSG00000085382	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,MYCN proto-oncogene, bHLH transcription factor
ENSG00000085491	solute carrier family 25 member 24,solute carrier family 25 member 24
ENSG00000085563	interleukin 23 receptor
ENSG00000085788	DDHD domain containing 2
ENSG00000085840	origin recognition complex subunit 4
ENSG00000085978	interleukin 6
ENSG00000085998	CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),S-phase cyclin A associated protein in the ER
ENSG00000085999	cadherin 1
ENSG00000086062	beta-1,4-galactosyltransferase 1
ENSG00000086288	dynein axonemal heavy chain 1
ENSG00000086300	chloride voltage-gated channel 7
ENSG00000086548	serpin family A member 1
ENSG00000086570	FAT atypical cadherin 2
ENSG00000086758	zinc finger MIZ-type containing 1
ENSG00000086848	ALG9 alpha-1,2-mannosyltransferase,glucosidase II alpha subunit
ENSG00000087053	myotubularin related protein 2
ENSG00000087086	ferritin light chain,ferritin light chain,ferritin light chain,ferritin light chain,ferritin light chain
ENSG00000087116	ADAM metallopeptidase with thrombospondin type 1 motif 2
ENSG00000087237	cholesteryl ester transfer protein
ENSG00000087245	matrix metallopeptidase 2
ENSG00000087258	Dmx like 2,G protein subunit alpha o1
ENSG00000087266	SH3 domain binding protein 2
ENSG00000087299	L-2-hydroxyglutarate dehydrogenase
ENSG00000087460	GNAS complex locus,GNAS complex locus,GNAS complex locus,GNAS complex locus,GNAS complex locus,GNAS complex locus,GNAS complex locus,GNAS complex locus,Monostotic fibrous dysplasia,Polyostotic fibrous dysplasia
ENSG00000087470	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,OPA1 mitochondrial dynamin like GTPase
ENSG00000087494	homeobox D13
ENSG00000088002	ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000088035	ALG6 alpha-1,3-glucosyltransferase
ENSG00000088038	ABL proto-oncogene 1, non-receptor tyrosine kinase,zinc finger MIZ-type containing 1
ENSG00000088053	Bleeding diathesis due to glycoprotein VI deficiency
ENSG00000088256	Autosomal dominant hypocalcemia,cysteinyl leukotriene receptor 2,Familial hypocalciuric hypercalcemia type 2,G protein subunit alpha 11,Phakomatosis cesioflammea,Phakomatosis cesiomarmorata
ENSG00000088305	DNA methyltransferase 3 beta,DNA methyltransferase 3 beta
ENSG00000088367	Autosomal dominant non-syndromic intellectual disability
ENSG00000088451	TDP-glucose 4,6-dehydratase
ENSG00000088538	zinc finger MIZ-type containing 1
ENSG00000088682	coenzyme Q9
ENSG00000088836	solute carrier family 4 member 11,solute carrier family 4 member 11,solute carrier family 4 member 11
ENSG00000088926	coagulation factor XI
ENSG00000088970	S-phase cyclin A associated protein in the ER
ENSG00000089041	purinergic receptor P2X 7
ENSG00000089101	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000089127	2'-5'-oligoadenylate synthetase 1
ENSG00000089225	T-box transcription factor 5,triadin
ENSG00000089250	cytokine receptor like factor 1
ENSG00000089280	alsin Rho guanine nucleotide exchange factor ALS2,cyclin F,dopamine receptor D3,FUS RNA binding protein,Myxoid/round cell liposarcoma,valosin containing protein
ENSG00000089289	immunoglobulin binding protein 1
ENSG00000089597	glucosidase II alpha subunit
ENSG00000089818	actin like 6B
ENSG00000090006	dystrophin,latent transforming growth factor beta binding protein 4,latent transforming growth factor beta binding protein 4
ENSG00000090020	solute carrier family 9 member A1
ENSG00000090054	alsin Rho guanine nucleotide exchange factor ALS2,atlastin GTPase 1
ENSG00000090061	cyclin K
ENSG00000090382	ALys amyloidosis
ENSG00000090402	sucrase-isomaltase
ENSG00000090487	SPG21 abhydrolase domain containing, maspardin
ENSG00000090520	glucosidase II alpha subunit
ENSG00000090530	synthesis of cytochrome C oxidase 2
ENSG00000090534	thrombopoietin,thrombopoietin,thrombopoietin,thrombopoietin
ENSG00000090581	Mucolipidosis type III gamma
ENSG00000090674	mucolipin TRP cation channel 1
ENSG00000090686	cadherin related 23,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000090776	ephrin B1
ENSG00000090861	actin like 6B,alanyl-tRNA synthetase 1,M-phase specific PLK1 interacting protein
ENSG00000090932	delta like canonical Notch ligand 3
ENSG00000091010	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000091106	NLR family CARD domain containing 4,NLR family CARD domain containing 4
ENSG00000091127	zinc finger MIZ-type containing 1
ENSG00000091129	zinc finger MIZ-type containing 1
ENSG00000091136	laminin subunit beta 1
ENSG00000091137	forkhead box E1,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,solute carrier family 26 member 4,solute carrier family 26 member 4
ENSG00000091138	solute carrier family 26 member 3
ENSG00000091140	Pyruvate dehydrogenase E3 deficiency
ENSG00000091262	ATP binding cassette subfamily C member 6,ATP binding cassette subfamily C member 6
ENSG00000091409	integrin subunit alpha 6
ENSG00000091436	mitogen-activated protein kinase kinase kinase 20,mitogen-activated protein kinase kinase kinase 20
ENSG00000091482	Rare X-linked non-syndromic sensorineural deafness type DFN
ENSG00000091483	fumarate hydratase,fumarate hydratase,solute carrier family 25 member 11
ENSG00000091513	transferrin
ENSG00000091536	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000091592	NLR family pyrin domain containing 1,NLR family pyrin domain containing 1
ENSG00000091622	retinitis pigmentosa GTPase regulator
ENSG00000091651	origin recognition complex subunit 4
ENSG00000091656	collagen type XXV alpha 1 chain
ENSG00000091704	calcium sensing receptor
ENSG00000091831	estrogen receptor 1
ENSG00000091879	angiopoietin 2,Non-immune hydrops fetalis
ENSG00000092054	Autosomal dominant myosin storage myopathy,Autosomal recessive myosin storage myopathy,Classic multiminicore myopathy,filamin C,myosin heavy chain 7,myosin heavy chain 7,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000092067	CCAAT enhancer binding protein epsilon,CCAAT enhancer binding protein epsilon
ENSG00000092094	O-sialoglycoprotein endopeptidase
ENSG00000092098	RANBP2-type and C3HC4-type zinc finger containing 1
ENSG00000092200	retinitis pigmentosa GTPase regulator,thioredoxin domain containing 15,ubiquitin specific peptidase 45
ENSG00000092201	chromodomain helicase DNA binding protein 8
ENSG00000092295	arachidonate 12-lipoxygenase, 12R type,ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1,transglutaminase 1,transglutaminase 1
ENSG00000092330	dyskerin pseudouridine synthase 1,nucleophosmin 1,TERF1 interacting nuclear factor 2
ENSG00000092439	Parkinsonism associated deglycase,tubulin alpha 8
ENSG00000092529	calpain 3,calpain 3
ENSG00000092607	T-box transcription factor 15
ENSG00000092621	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
ENSG00000092758	Autosomal recessive Stickler syndrome,collagen type IX alpha 1 chain
ENSG00000092820	Autosomal recessive non-syndromic intellectual disability
ENSG00000092847	zinc finger MIZ-type containing 1
ENSG00000092929	perforin 1
ENSG00000092964	Autosomal dominant non-syndromic intellectual disability
ENSG00000092969	forkhead box E3,transforming growth factor beta 2
ENSG00000093009	origin recognition complex subunit 4
ENSG00000093010	T-box transcription factor 1
ENSG00000093072	adenosine deaminase 2,adenosine deaminase 2,ribosomal protein L18
ENSG00000094631	histone deacetylase 6
ENSG00000094804	origin recognition complex subunit 4
ENSG00000094914	trafficking protein particle complex subunit 11
ENSG00000095002	mutS homolog 6,PMS1 homolog 2, mismatch repair system component
ENSG00000095015	DEAH-box helicase 37,DEAH-box helicase 37
ENSG00000095209	Osteogenesis imperfecta type 4
ENSG00000095380	N-acetylneuraminate synthase
ENSG00000095397	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 2
ENSG00000095464	phosphodiesterase 6C,phosphodiesterase 6C
ENSG00000095485	CWF19 like cell cycle control factor 1
ENSG00000095574	Autosomal thrombocytopenia with normal platelets
ENSG00000095585	Autosomal agammaglobulinemia
ENSG00000095777	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000095787	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ENSG00000095970	ATP binding cassette subfamily A member 7,cyclin F,presenilin 1,sortilin related receptor 1,transmembrane protein 106B,transmembrane protein 106B,triggering receptor expressed on myeloid cells 2
ENSG00000096093	ciliogenesis associated kinase 1,EF-hand domain containing 1
ENSG00000096696	desmoplakin,desmoplakin,desmoplakin,desmoplakin,desmoplakin,desmoplakin,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,surfactant protein A1,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000096872	Bardet-Biedl syndrome 1,centrosomal protein 120,Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000096968	coagulation factor V,Janus kinase 2,Janus kinase 2,tet methylcytosine dioxygenase 2,thrombopoietin
ENSG00000096996	interleukin 12 receptor subunit beta 1,interleukin 12 receptor subunit beta 1
ENSG00000097007	ABL proto-oncogene 1, non-receptor tyrosine kinase,ABL proto-oncogene 1, non-receptor tyrosine kinase,BCR activator of RhoGEF and GTPase,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ENSG00000099246	RAB3 GTPase activating protein catalytic subunit 1
ENSG00000099365	hyperpolarization activated cyclic nucleotide gated potassium channel 1
ENSG00000099377	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ENSG00000099381	zinc finger MIZ-type containing 1
ENSG00000099624	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000099769	insulin like growth factor binding protein acid labile subunit
ENSG00000099797	Autosomal recessive non-syndromic intellectual disability
ENSG00000099810	methylthioadenosine phosphorylase
ENSG00000099889	T-box transcription factor 1
ENSG00000099940	synaptosome associated protein 29
ENSG00000099942	BCR activator of RhoGEF and GTPase
ENSG00000099949	Giant cell glioblastoma,Gliosarcoma,NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor,RAS related
ENSG00000099956	AT-rich interaction domain 2,NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000100014	patched 2,sperm antigen with calponin homology and coiled-coil domains 1 like,sperm antigen with calponin homology and coiled-coil domains 1 like
ENSG00000100024	beta-ureidopropionase 1
ENSG00000100030	BCR activator of RhoGEF and GTPase
ENSG00000100031	gamma-glutamyltransferase 1
ENSG00000100033	proline dehydrogenase 1
ENSG00000100053	Early-onset anterior polar cataract,Early-onset nuclear cataract
ENSG00000100075	Presynaptic congenital myasthenic syndromes,solute carrier family 25 member 1
ENSG00000100084	T-box transcription factor 1
ENSG00000100099	Hermansky-Pudlak syndrome due to BLOC-3 deficiency
ENSG00000100106	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000100122	crystallin alpha A,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000100146	Kallmann syndrome,SRY-box transcription factor 10,SRY-box transcription factor 10,Waardenburg syndrome type 2
ENSG00000100150	cholinergic receptor nicotinic alpha 4 subunit,DEP domain containing 5, GATOR1 subcomplex subunit,reelin
ENSG00000100151	Male infertility due to globozoospermia
ENSG00000100170	solute carrier family 5 member 1
ENSG00000100206	inhibin subunit alpha
ENSG00000100207	zinc finger MIZ-type containing 1
ENSG00000100211	centrosomal protein 120
ENSG00000100225	synuclein alpha
ENSG00000100234	TIMP metallopeptidase inhibitor 3
ENSG00000100241	SET binding factor 1
ENSG00000100243	cytochrome b5 reductase 3
ENSG00000100246	dynein axonemal light chain 4
ENSG00000100280	adaptor related protein complex 1 subunit beta 1
ENSG00000100284	target of myb1 membrane trafficking protein
ENSG00000100285	cyclin F
ENSG00000100288	choline kinase beta,choline kinase beta
ENSG00000100292	heme oxygenase 1,serpin family A member 1
ENSG00000100294	YME1 like 1 ATPase
ENSG00000100299	arylsulfatase A,Metachromatic leukodystrophy, adult form,Metachromatic leukodystrophy, juvenile form,Metachromatic leukodystrophy, late infantile form
ENSG00000100311	collagen type I alpha 1 chain,junctional adhesion molecule 2,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000100342	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000100344	apolipoprotein C3
ENSG00000100345	myosin heavy chain 9,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,ubiquitin specific peptidase 6
ENSG00000100346	Autosomal dominant non-syndromic intellectual disability
ENSG00000100348	thioredoxin 2
ENSG00000100354	zinc finger MIZ-type containing 1
ENSG00000100360	Bardet-Biedl syndrome 1
ENSG00000100365	cytochrome b-245 beta chain,interleukin 6
ENSG00000100368	colony stimulating factor 2 receptor subunit beta
ENSG00000100373	Renal agenesis, unilateral
ENSG00000100379	Role in the phenotype of
ENSG00000100385	protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22
ENSG00000100393	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
ENSG00000100412	aconitase 2,YME1 like 1 ATPase
ENSG00000100413	nuclear receptor subfamily 5 group A member 1
ENSG00000100416	Rare mitochondrial non-syndromic sensorineural deafness,tRNA mitochondrial 2-thiouridylase,tRNA mitochondrial 2-thiouridylase
ENSG00000100427	modulator of VRAC current 1
ENSG00000100473	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000100478	adaptor related protein complex 4 subunit mu 1
ENSG00000100485	RAS related
ENSG00000100503	ninein
ENSG00000100504	glycogen phosphorylase L
ENSG00000100523	DDHD domain containing 1
ENSG00000100578	centrosomal protein 120,centrosome and spindle pole associated protein 1
ENSG00000100596	atlastin GTPase 1
ENSG00000100652	epoxide hydrolase 1
ENSG00000100697	dicer 1, ribonuclease III,dicer 1, ribonuclease III,dicer 1, ribonuclease III,dicer 1, ribonuclease III,Embryonal rhabdomyosarcoma,forkhead box L2,kelch like ECH associated protein 1
ENSG00000100721	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000100722	Autosomal recessive non-syndromic intellectual disability
ENSG00000100726	telomere maintenance 2
ENSG00000100749	ATP/GTP binding carboxypeptidase 1,VRK serine/threonine kinase 1
ENSG00000100811	YY1 transcription factor,YY1 transcription factor
ENSG00000100815	Achondrogenesis type 1A,thyroid hormone receptor interactor 11
ENSG00000100836	poly(A) binding protein nuclear 1
ENSG00000100883	SBDS ribosome maturation factor,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000100888	chromodomain helicase DNA binding protein 8,chromodomain helicase DNA binding protein 8,RAB39B, member RAS oncogene family
ENSG00000100889	phosphoenolpyruvate carboxykinase 1
ENSG00000100906	Giant cell glioblastoma,Gliosarcoma,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,NFKB inhibitor alpha
ENSG00000100934	SEC23 homolog A, COPII coat complex component
ENSG00000100983	Glutathione synthetase deficiency with 5-oxoprolinuria,Glutathione synthetase deficiency without 5-oxoprolinuria
ENSG00000100985	matrix metallopeptidase 13
ENSG00000100987	visual system homeobox 1,visual system homeobox 1
ENSG00000100997	abhydrolase domain containing 12, lysophospholipase
ENSG00000101000	protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000101003	GINS complex subunit 1
ENSG00000101017	Hyper-IgM syndrome type 3
ENSG00000101052	intraflagellar transport 122
ENSG00000101076	ATP binding cassette subfamily C member 8,hepatocyte nuclear factor 4 alpha,hepatocyte nuclear factor 4 alpha
ENSG00000101109	serine/threonine kinase 4
ENSG00000101115	chimerin 1,Okihiro syndrome due to 20q13 microdeletion,Okihiro syndrome due to a point mutation,spalt like transcription factor 4,spalt like transcription factor 4
ENSG00000101126	activity dependent neuroprotector homeobox
ENSG00000101152	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000101161	S-phase cyclin A associated protein in the ER
ENSG00000101162	tubulin alpha 8
ENSG00000101194	mevalonate kinase
ENSG00000101200	Hereditary central diabetes insipidus
ENSG00000101204	cholinergic receptor nicotinic alpha 4 subunit
ENSG00000101210	actin like 6B,Autosomal dominant non-syndromic intellectual disability
ENSG00000101247	transmembrane protein 126B
ENSG00000101266	zinc finger MIZ-type containing 1
ENSG00000101276	RFVT3-related riboflavin transporter deficiency
ENSG00000101282	Anonychia congenita totalis
ENSG00000101292	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism,prokineticin receptor 2,WD repeat domain 11
ENSG00000101306	filamin C
ENSG00000101310	phosphatase and tensin homolog,SEC23 homolog B, COPII coat complex component
ENSG00000101311	FERM domain containing kindlin 1
ENSG00000101327	prodynorphin
ENSG00000101333	G protein subunit alpha i3
ENSG00000101346	presenilin enhancer, gamma-secretase subunit
ENSG00000101347	LSM11, U7 small nuclear RNA associated,SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ENSG00000101361	NOP56 ribonucleoprotein
ENSG00000101365	S-phase cyclin A associated protein in the ER
ENSG00000101384	Alagille syndrome due to 20p12 microdeletion,Alagille syndrome due to a JAG1 point mutation,kinase insert domain receptor
ENSG00000101400	triadin
ENSG00000101421	Early-onset posterior polar cataract,Early-onset posterior subcapsular cataract
ENSG00000101438	Dmx like 2
ENSG00000101439	ACys amyloidosis
ENSG00000101444	adenosylhomocysteinase
ENSG00000101577	lipin 2
ENSG00000101596	DNA methyltransferase 3 beta,DNA methyltransferase 3 beta,structural maintenance of chromosomes flexible hinge domain containing 1
ENSG00000101680	laminin subunit alpha 1
ENSG00000101752	pleckstrin homology and RUN domain containing M2
ENSG00000101773	DNA replication helicase/nuclease 2,RB binding protein 8, endonuclease
ENSG00000101846	filaggrin,steroid sulfatase
ENSG00000101850	adaptor related protein complex 3 subunit delta 1,FERM domain containing 7
ENSG00000101856	inhibin subunit alpha,Total early-onset cataract
ENSG00000101868	DNA polymerase alpha 1, catalytic subunit,DNA polymerase alpha 1, catalytic subunit
ENSG00000101871	midline 1
ENSG00000101901	ALG13 UDP-N-acetylglucosaminyltransferase subunit,X-linked non-syndromic intellectual disability
ENSG00000101935	potassium voltage-gated channel subfamily E regulatory subunit 5,potassium voltage-gated channel subfamily E regulatory subunit 5
ENSG00000101938	chordin like 1
ENSG00000101966	X-linked inhibitor of apoptosis
ENSG00000101972	Alobar holoprosencephaly,Semilobar holoprosencephaly,STAG2 cohesin complex component
ENSG00000101981	Bleeding disorder in hemophilia B carriers,Mild hemophilia B,Moderate hemophilia B,Severe hemophilia B
ENSG00000101986	Adrenomyeloneuropathy,ATPase copper transporting alpha,ATP binding cassette subfamily D member 1,X-linked cerebral adrenoleukodystrophy
ENSG00000101997	VPS35 endosomal protein sorting factor like
ENSG00000102001	calcium voltage-gated channel subunit alpha1 F,retinitis pigmentosa GTPase regulator,rhodopsin
ENSG00000102003	X-linked non-syndromic intellectual disability
ENSG00000102024	plastin 3
ENSG00000102030	BCL6 corepressor,N-alpha-acetyltransferase 10, NatA catalytic subunit
ENSG00000102034	E74 like ETS transcription factor 4,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
ENSG00000102076	opsin 1, long wave sensitive,opsin 1, medium wave sensitive,opsin 1, medium wave sensitive,retinitis pigmentosa GTPase regulator
ENSG00000102081	fragile X messenger ribonucleoprotein 1,fragile X messenger ribonucleoprotein 1,fragile X messenger ribonucleoprotein 1,fragile X messenger ribonucleoprotein 1,fragile X messenger ribonucleoprotein 1,inhibin subunit alpha
ENSG00000102100	Isolated focal cortical dysplasia type Ia,solute carrier family 35 member A2
ENSG00000102103	Hamel cerebro-palato-cardiac syndrome,X-linked intellectual disability, Golabi-Ito-Hall type,X-linked intellectual disability, Porteous type,X-linked intellectual disability, Sutherland-Haan type
ENSG00000102104	retinoschisin 1
ENSG00000102119	X-linked Emery-Dreifuss muscular dystrophy
ENSG00000102125	tafazzin, phospholipid-lysophospholipid transacylase,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000102144	phosphoglycerate kinase 1
ENSG00000102145	Acute megakaryoblastic leukemia in Down syndrome,GATA binding protein 1,GATA binding protein 1,GATA binding protein 1,GATA binding protein 1,MYB proto-oncogene, transcription factor,ribosomal protein L18,uroporphyrinogen III synthase
ENSG00000102158	magnesium transporter 1
ENSG00000102172	spermine synthase
ENSG00000102174	phosphate regulating endopeptidase X-linked
ENSG00000102218	S-phase cyclin A associated protein in the ER
ENSG00000102245	X-linked hyper-IgM syndrome
ENSG00000102302	FYVE, RhoGEF and PH domain containing 1
ENSG00000102312	porcupine O-acyltransferase,sonic hedgehog signaling molecule
ENSG00000102316	Bartter syndrome type 5
ENSG00000102359	Bilateral perisylvian polymicrogyria,gamma-aminobutyric acid type A receptor subunit gamma2,sushi repeat containing protein X-linked 2
ENSG00000102393	galactosidase alpha
ENSG00000102452	sodium leak channel, non-selective,sodium leak channel, non-selective,sodium leak channel, non-selective,sodium leak channel, non-selective,sodium leak channel, non-selective
ENSG00000102466	fibroblast growth factor 14
ENSG00000102575	acid phosphatase 5, tartrate resistant
ENSG00000102580	DnaJ heat shock protein family (Hsp40) member C3
ENSG00000102678	growth differentiation factor 5
ENSG00000102683	sarcoglycan gamma
ENSG00000102743	solute carrier family 25 member 15
ENSG00000102753	Disease-causing germline mutation(s) in
ENSG00000102755	fms related receptor tyrosine kinase 1
ENSG00000102805	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000102878	Early-onset lamellar cataract,Total early-onset cataract
ENSG00000102879	coronin 1A
ENSG00000102893	phosphorylase kinase regulatory subunit beta
ENSG00000102900	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000102908	nuclear factor of activated T cells 5
ENSG00000102931	S-phase cyclin A associated protein in the ER
ENSG00000102935	centrosomal protein 290,Infantile nephronophthisis
ENSG00000102967	dihydroorotate dehydrogenase (quinone)
ENSG00000102974	CCCTC-binding factor
ENSG00000102977	cyclin dependent kinase 4,dyskerin pseudouridine synthase 1,thrombopoietin
ENSG00000103005	nucleophosmin 1,U6 snRNA biogenesis phosphodiesterase 1
ENSG00000103043	FIG4 phosphoinositide 5-phosphatase,VAC14 component of PIKFYVE complex
ENSG00000103051	component of oligomeric golgi complex 4,component of oligomeric golgi complex 4
ENSG00000103089	fatty acid 2-hydroxylase,fatty acid 2-hydroxylase
ENSG00000103126	axin 1
ENSG00000103148	DEP domain containing 5, GATOR1 subcomplex subunit
ENSG00000103150	malonyl-CoA decarboxylase
ENSG00000103197	axin 1,interferon gamma,Isolated focal cortical dysplasia type IIa,Isolated focal cortical dysplasia type IIb,TSC complex subunit 1,TSC complex subunit 2
ENSG00000103222	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000103227	Familial lipase maturation factor 1 deficiency
ENSG00000103241	forkhead box F1
ENSG00000103249	chloride voltage-gated channel 7,chloride voltage-gated channel 7,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000103264	Autosomal recessive non-syndromic intellectual disability
ENSG00000103266	STIP1 homology and U-box containing protein 1,STIP1 homology and U-box containing protein 1
ENSG00000103310	zona pellucida glycoprotein 2
ENSG00000103313	interleukin 10,MEFV innate immunity regulator, pyrin,MEFV innate immunity regulator, pyrin,MEFV innate immunity regulator, pyrin
ENSG00000103316	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000103326	calpain 15
ENSG00000103335	angiopoietin 2,piezo type mechanosensitive ion channel component 1,solute carrier family 4 member 1 (Diego blood group)
ENSG00000103356	glutamyl-tRNA synthetase 2, mitochondrial
ENSG00000103449	spalt like transcription factor 1
ENSG00000103489	chondroitin sulfate N-acetylgalactosaminyltransferase 1,xylosyltransferase 1
ENSG00000103494	nephrocystin 1,thioredoxin domain containing 15,transmembrane protein 67
ENSG00000103507	branched chain keto acid dehydrogenase kinase
ENSG00000103510	zinc finger MIZ-type containing 1
ENSG00000103522	interleukin 21 receptor
ENSG00000103544	VPS35 endosomal protein sorting factor like
ENSG00000103546	solute carrier family 6 member 2
ENSG00000103591	collagen type XIV alpha 1 chain
ENSG00000103657	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
ENSG00000103671	activating signal cointegrator 1 complex subunit 1,thyroid hormone receptor interactor 4
ENSG00000103707	mitochondrial methionyl-tRNA formyltransferase
ENSG00000103723	actin like 6B
ENSG00000103769	Autosomal dominant non-syndromic intellectual disability
ENSG00000103811	hypocretin neuropeptide precursor
ENSG00000103876	fumarylacetoacetate hydrolase
ENSG00000103942	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000103995	Autosomal recessive primary microcephaly,DNA replication helicase/nuclease 2
ENSG00000104044	Angelman syndrome due to maternal 15q11q13 deletion,OCA2 melanosomal transmembrane protein,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ENSG00000104055	cystatin A
ENSG00000104093	Dmx like 2,Dmx like 2,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000104133	alsin Rho guanine nucleotide exchange factor ALS2,SPG11 vesicle trafficking associated, spatacsin,SPG11 vesicle trafficking associated, spatacsin
ENSG00000104164	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ENSG00000104213	axin 1
ENSG00000104218	centrosomal protein 120,centrosome and spindle pole associated protein 1,thioredoxin domain containing 15
ENSG00000104237	S-phase cyclin A associated protein in the ER
ENSG00000104267	carbonic anhydrase 2
ENSG00000104313	EYA transcriptional coactivator and phosphatase 1,EYA transcriptional coactivator and phosphatase 1,SIX homeobox 1
ENSG00000104320	cadherin 1,nibrin,phosphatase and tensin homolog
ENSG00000104321	Familial episodic pain syndrome with predominantly upper body involvement,transient receptor potential cation channel subfamily A member 1
ENSG00000104331	3'(2'), 5'-bisphosphate nucleotidase 2
ENSG00000104356	RNA component of mitochondrial RNA processing endoribonuclease
ENSG00000104365	inhibitor of nuclear factor kappa B kinase subunit beta
ENSG00000104368	plasminogen activator, tissue type,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000104381	ganglioside induced differentiation associated protein 1,ganglioside induced differentiation associated protein 1,ganglioside induced differentiation associated protein 1,ganglioside induced differentiation associated protein 1,ganglioside induced differentiation associated protein 1
ENSG00000104419	N-myc downstream regulated 1
ENSG00000104432	transmembrane channel like 6
ENSG00000104447	RAD21 cohesin complex component,transcriptional repressor GATA binding 1
ENSG00000104450	dynein axonemal heavy chain 1
ENSG00000104635	solute carrier family 39 member 14
ENSG00000104687	glutathione-disulfide reductase
ENSG00000104723	Autosomal recessive non-syndromic intellectual disability
ENSG00000104728	Rho guanine nucleotide exchange factor 10
ENSG00000104738	minichromosome maintenance complex component 4
ENSG00000104763	N-acylsphingosine amidohydrolase 1,N-acylsphingosine amidohydrolase 1
ENSG00000104774	Alpha-mannosidosis, adult form,Alpha-mannosidosis, infantile form
ENSG00000104783	serpin family A member 1,solute carrier family 4 member 1 (Diego blood group)
ENSG00000104812	glycogen synthase 1
ENSG00000104826	Leydig cell hypoplasia due to LHB deficiency
ENSG00000104833	tubulin beta 4A class IVa,tubulin beta 4A class IVa
ENSG00000104835	seryl-tRNA synthetase 2, mitochondrial
ENSG00000104880	S-phase cyclin A associated protein in the ER
ENSG00000104884	COFS syndrome,ERCC excision repair 5, endonuclease,M-phase specific PLK1 interacting protein,XPA, DNA damage recognition and repair factor
ENSG00000104889	LSM11, U7 small nuclear RNA associated
ENSG00000104899	anti-Mullerian hormone
ENSG00000104907	zinc finger MIZ-type containing 1
ENSG00000104936	Adult-onset Steinert myotonic dystrophy,Childhood-onset Steinert myotonic dystrophy,Congenital-onset Steinert myotonic dystrophy,Juvenile-onset Steinert myotonic dystrophy,Late-onset Steinert myotonic dystrophy
ENSG00000104973	Autosomal recessive non-syndromic intellectual disability,mediator complex subunit 25
ENSG00000105048	troponin T1, slow skeletal type
ENSG00000105146	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000105197	translocase of inner mitochondrial membrane 50
ENSG00000105204	LDL receptor related protein 6
ENSG00000105220	glucose-6-phosphate isomerase
ENSG00000105221	AKT serine/threonine kinase 2,AKT serine/threonine kinase 2
ENSG00000105223	phospholipase D family member 3
ENSG00000105227	periaxin,peripheral myelin protein 22
ENSG00000105325	actin like 6B
ENSG00000105329	serpin family A member 1,transforming growth factor beta 1,transforming growth factor beta 1
ENSG00000105357	myosin heavy chain 14,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000105369	Autosomal agammaglobulinemia
ENSG00000105370	Total early-onset cataract
ENSG00000105372	ribosomal protein L18
ENSG00000105379	Multiple acyl-CoA dehydrogenase deficiency, mild type,Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ENSG00000105392	retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000105397	tyrosine kinase 2,tyrosine kinase 2,tyrosine kinase 2
ENSG00000105409	actin like 6B,ATPase Na+/K+ transporting subunit alpha 3,ATPase Na+/K+ transporting subunit alpha 3,calcium voltage-gated channel subunit alpha1 A
ENSG00000105429	multiple EGF like domains 8
ENSG00000105464	actin like 6B
ENSG00000105479	dynein axonemal heavy chain 1
ENSG00000105568	protein phosphatase 2 scaffold subunit Aalpha
ENSG00000105607	glutaryl-CoA dehydrogenase
ENSG00000105610	hemoglobin subunit beta,hemoglobin subunit beta,KLF transcription factor 1
ENSG00000105618	S-phase cyclin A associated protein in the ER
ENSG00000105639	Janus kinase 3
ENSG00000105641	solute carrier family 5 member 5
ENSG00000105647	phosphoinositide-3-kinase regulatory subunit 2,phosphoinositide-3-kinase regulatory subunit 2
ENSG00000105664	cartilage oligomeric matrix protein,cartilage oligomeric matrix protein
ENSG00000105675	ATPase H+/K+ transporting subunit alpha
ENSG00000105695	myelin associated glycoprotein
ENSG00000105697	hemojuvelin BMP co-receptor,homeostatic iron regulator
ENSG00000105711	ATP binding cassette subfamily C member 9,Dmx like 2,hyperpolarization activated cyclic nucleotide gated potassium channel 1,hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel beta subunit 1
ENSG00000105722	ALX homeobox 4,ETS2 repressor factor,fibroblast growth factor receptor 2
ENSG00000105738	Total early-onset cataract
ENSG00000105755	ETHE1 persulfide dioxygenase
ENSG00000105792	cilia and flagella associated protein 251
ENSG00000105810	Autosomal recessive primary microcephaly
ENSG00000105819	peptidase, mitochondrial processing subunit beta
ENSG00000105852	cyclin F
ENSG00000105854	cyclin F
ENSG00000105877	dynein axonemal heavy chain 1
ENSG00000105880	distal-less homeobox 5,distal-less homeobox 6
ENSG00000105928	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000105929	Autosomal recessive distal renal tubular acidosis
ENSG00000105953	oxoglutarate dehydrogenase
ENSG00000105974	caveolae associated protein 1,Diffuse cutaneous systemic sclerosis,Heritable pulmonary arterial hypertension,Limited cutaneous systemic sclerosis
ENSG00000105976	MET proto-oncogene, receptor tyrosine kinase,MET proto-oncogene, receptor tyrosine kinase,MET proto-oncogene, receptor tyrosine kinase,MET proto-oncogene, receptor tyrosine kinase,RAB39B, member RAS oncogene family,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000105983	limb development membrane protein 1,limb development membrane protein 1,limb development membrane protein 1,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule
ENSG00000105991	homeobox A1,homeobox A1
ENSG00000105993	DnaJ heat shock protein family (Hsp40) member B6
ENSG00000105996	homeobox A2,homeobox A2
ENSG00000106003	delta like canonical Notch ligand 3
ENSG00000106009	BRCA1 associated ATM activator 1
ENSG00000106012	GLI family zinc finger 1
ENSG00000106025	catenin beta 1
ENSG00000106028	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000106031	homeobox A13,homeobox A13
ENSG00000106070	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
ENSG00000106080	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
ENSG00000106089	serpin family A member 1,syntaxin 1A
ENSG00000106105	glycyl-tRNA synthetase 1,receptor accessory protein 1
ENSG00000106128	Isolated growth hormone deficiency type IB
ENSG00000106211	heat shock protein family B (small) member 1,heat shock protein family B (small) member 1
ENSG00000106327	homeostatic iron regulator,transferrin receptor 2
ENSG00000106331	ATP binding cassette subfamily C member 8
ENSG00000106344	RNA binding motif protein 28
ENSG00000106348	S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000106366	serpin family E member 1
ENSG00000106367	adaptor related protein complex 1 subunit beta 1
ENSG00000106397	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
ENSG00000106410	inhibin subunit alpha
ENSG00000106460	presenilin 1,transmembrane protein 106B,transmembrane protein 106B
ENSG00000106462	embryonic ectoderm development
ENSG00000106477	Abelson helper integration site 1,centrosomal protein 120
ENSG00000106483	secreted frizzled related protein 4
ENSG00000106536	BRCA2 DNA repair associated
ENSG00000106546	S-phase cyclin A associated protein in the ER
ENSG00000106571	GLI family zinc finger 1,GLI family zinc finger 1,GLI family zinc finger 3,GLI family zinc finger 3,GLI family zinc finger 3,GLI family zinc finger 3,GLI family zinc finger 3
ENSG00000106605	biliverdin reductase A
ENSG00000106617	filamin C,protein kinase AMP-activated non-catalytic subunit gamma 2,protein kinase AMP-activated non-catalytic subunit gamma 2
ENSG00000106624	AE binding protein 1
ENSG00000106633	ATP binding cassette subfamily C member 8,glucokinase,signal transducer and activator of transcription 3
ENSG00000106635	syntaxin 1A
ENSG00000106638	syntaxin 1A
ENSG00000106665	syntaxin 1A
ENSG00000106682	syntaxin 1A
ENSG00000106683	syntaxin 1A
ENSG00000106688	solute carrier family 1 member 1,solute carrier family 1 member 1
ENSG00000106692	CDP-L-ribitol pyrophosphorylase A,fukutin,fukutin,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000106799	forkhead box E3,Marfan syndrome type 2,transforming growth factor beta 2,transforming growth factor beta receptor 1
ENSG00000106804	complement C5
ENSG00000106976	actin like 6B,cut like homeobox 2
ENSG00000106991	activin A receptor like type 1,angiopoietin like 6,Generalized juvenile polyposis/juvenile polyposis coli,Heritable pulmonary arterial hypertension
ENSG00000106992	adenylate kinase 1
ENSG00000107036	Rho GTPase activating protein 29
ENSG00000107099	Autosomal dominant non-syndromic intellectual disability,dedicator of cytokinesis 8,zinc finger protein 341
ENSG00000107104	KN motif and ankyrin repeat domains 1
ENSG00000107147	cholinergic receptor nicotinic alpha 4 subunit,sodium voltage-gated channel alpha subunit 2
ENSG00000107165	tyrosinase related protein 1
ENSG00000107186	Congenital communicating hydrocephalus
ENSG00000107187	LIM homeobox 3,POU class 1 homeobox 1
ENSG00000107201	interferon induced with helicase C domain 1
ENSG00000107249	GLIS family zinc finger 3
ENSG00000107290	senataxin,senataxin
ENSG00000107331	Autosomal recessive non-syndromic intellectual disability
ENSG00000107371	ATP/GTP binding carboxypeptidase 1
ENSG00000107404	Autosomal dominant Robinow syndrome
ENSG00000107485	B-lymphoblastic leukemia/lymphoma with hyperdiploidy,GATA binding protein 3
ENSG00000107521	Hermansky-Pudlak syndrome due to BLOC-3 deficiency
ENSG00000107537	phytanoyl-CoA 2-hydroxylase
ENSG00000107554	Total early-onset cataract
ENSG00000107566	ER lipid raft associated 1
ENSG00000107611	amnion associated transmembrane protein
ENSG00000107736	cadherin related 23,cadherin related 23,cadherin related 23,cadherin related 23,Disease-causing germline mutation(s) in,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000107745	mitochondrial calcium uptake 1
ENSG00000107779	bone morphogenetic protein receptor type 1A,bone morphogenetic protein receptor type 1A,Generalized juvenile polyposis/juvenile polyposis coli,Juvenile polyposis of infancy
ENSG00000107789	multiple inositol-polyphosphate phosphatase 1,target of EGR1, exonuclease
ENSG00000107796	actin alpha 2, smooth muscle,diaphanous related formin 1,forkhead box E3
ENSG00000107798	Cholesteryl ester storage disease,signal transducing adaptor family member 1,Wolman disease
ENSG00000107807	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000107815	DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,Perrault syndrome type 1,Perrault syndrome type 2,twinkle mtDNA helicase,twinkle mtDNA helicase
ENSG00000107829	distal-less homeobox 6
ENSG00000107831	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Kallmann syndrome,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Normosmic congenital hypogonadotropic hypogonadism,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000107859	Early-onset posterior polar cataract,paired like homeodomain 3
ENSG00000107882	centrosomal protein 120,Desmoplastic/nodular medulloblastoma,fibroblast growth factor receptor 1,Medulloblastoma with extensive nodularity,patched 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000107890	Autosomal thrombocytopenia with normal platelets,ETS variant transcription factor 6
ENSG00000107951	mitochondrial poly(A) polymerase
ENSG00000107957	Malignant peripheral nerve sheath tumor with perineurial differentiation,Malignant triton tumor
ENSG00000107960	CST telomere replication complex component 1,surfactant protein A1
ENSG00000107984	dickkopf WNT signaling pathway inhibitor 1,Wnt family member 3A
ENSG00000108055	structural maintenance of chromosomes 1A
ENSG00000108061	protein phosphatase 1 catalytic subunit beta
ENSG00000108091	eukaryotic translation initiation factor 1A X-linked
ENSG00000108175	zinc finger MIZ-type containing 1
ENSG00000108176	DnaJ heat shock protein family (Hsp40) member C12
ENSG00000108231	reelin
ENSG00000108255	Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset sutural cataract
ENSG00000108312	upstream binding transcription factor
ENSG00000108370	regulator of G protein signaling 9 binding protein
ENSG00000108375	ring finger protein 43
ENSG00000108379	R-spondin 2
ENSG00000108381	Mild Canavan disease,Severe Canavan disease
ENSG00000108384	phosphatase and tensin homolog,RAD51 recombinase
ENSG00000108387	Male infertility due to globozoospermia
ENSG00000108395	tripartite motif containing 37
ENSG00000108433	golgi SNAP receptor complex member 2
ENSG00000108439	pyridoxamine 5'-phosphate oxidase
ENSG00000108474	phosphatidylinositol glycan anchor biosynthesis class L,phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000108479	galactokinase 1
ENSG00000108510	zinc finger MIZ-type containing 1
ENSG00000108515	enolase 3
ENSG00000108518	cyclin F
ENSG00000108528	solute carrier family 25 member 11
ENSG00000108556	Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000108557	DEAF1 transcription factor,retinoic acid induced 1,retinoic acid induced 1
ENSG00000108559	solute carrier family 18 member A3
ENSG00000108604	CCAAT enhancer binding protein epsilon
ENSG00000108641	centrosomal protein 120,thioredoxin domain containing 15
ENSG00000108733	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000108784	N-acetyl-alpha-glucosaminidase,Sanfilippo syndrome type B
ENSG00000108788	major histocompatibility complex, class I, B
ENSG00000108797	contactin associated protein 1
ENSG00000108813	Rho GTPase activating protein 29
ENSG00000108821	collagen type I alpha 1 chain,collagen type I alpha 1 chain,collagen type I alpha 1 chain,collagen type I alpha 1 chain,collagen type I alpha 2 chain,collagen type V alpha 2 chain,Osteogenesis imperfecta type 1,Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000108823	sarcoglycan alpha
ENSG00000108883	elongation factor Tu GTP binding domain containing 2
ENSG00000108924	B-lymphoblastic leukemia/lymphoma with t(17;19)
ENSG00000108946	phosphodiesterase 4D,PML nuclear body scaffold,protein kinase cAMP-dependent type I regulatory subunit alpha,protein kinase cAMP-dependent type I regulatory subunit alpha,tumor protein p53
ENSG00000108950	FAM20A golgi associated secretory pathway pseudokinase
ENSG00000108953	BCL6 corepressor,HIC ZBTB transcriptional repressor 1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
ENSG00000108961	hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000108963	diphthamide biosynthesis 1
ENSG00000109062	solute carrier family 34 member 1
ENSG00000109063	cholinergic receptor nicotinic gamma subunit,myosin heavy chain 3,myosin heavy chain 3,sodium leak channel, non-selective,sodium leak channel, non-selective,sodium leak channel, non-selective
ENSG00000109099	peripheral myelin protein 22,peripheral myelin protein 22,peripheral myelin protein 22,peripheral myelin protein 22,peripheral myelin protein 22,peripheral myelin protein 22,peripheral myelin protein 22
ENSG00000109101	forkhead box N1
ENSG00000109103	retinitis pigmentosa GTPase regulator,unc-119 lipid binding chaperone
ENSG00000109132	ladybird homeobox 1,MYCN proto-oncogene, bHLH transcription factor,paired like homeobox 2B,paired like homeobox 2B
ENSG00000109163	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000109320	CD19 molecule
ENSG00000109323	mannosidase beta
ENSG00000109339	cut like homeobox 2
ENSG00000109472	carboxypeptidase E
ENSG00000109501	Early-onset nuclear cataract,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,wolframin ER transmembrane glycoprotein,wolframin ER transmembrane glycoprotein
ENSG00000109536	DNA methyltransferase 3 beta
ENSG00000109572	zinc finger MIZ-type containing 1
ENSG00000109618	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,tRNA splicing endonuclease subunit 15
ENSG00000109654	tripartite motif containing 2
ENSG00000109667	solute carrier family 22 member 12
ENSG00000109685	phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000109705	NK3 homeobox 2
ENSG00000109738	ATPase family AAA domain containing 1
ENSG00000109775	Autosomal recessive non-syndromic intellectual disability,UFM1 specific peptidase 2
ENSG00000109819	cyclin F
ENSG00000109846	crystallin alpha B,crystallin alpha B,Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000109861	cathepsin C,cathepsin C
ENSG00000109881	sperm associated antigen 17
ENSG00000109906	ABL proto-oncogene 1, non-receptor tyrosine kinase,PML nuclear body scaffold
ENSG00000109927	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000109929	sterol-C5-desaturase
ENSG00000110057	unc-93 homolog B1, TLR signaling regulator
ENSG00000110060	pseudouridine synthase 3
ENSG00000110063	Autosomal recessive non-syndromic intellectual disability
ENSG00000110074	transmembrane protein 126B
ENSG00000110090	carnitine palmitoyltransferase 1A
ENSG00000110092	cyclin D1,cyclin D1,cyclin D1,purinergic receptor P2X 7
ENSG00000110195	folate receptor 1
ENSG00000110218	WEE2 oocyte meiosis inhibiting kinase
ENSG00000110243	Familial apolipoprotein A5 deficiency,lipase I
ENSG00000110245	apolipoprotein C3,microsomal triglyceride transfer protein
ENSG00000110274	centrosomal protein 290
ENSG00000110318	ciliogenesis and planar polarity effector complex subunit 1
ENSG00000110324	interleukin 10
ENSG00000110344	Autosomal recessive non-syndromic intellectual disability
ENSG00000110367	zinc finger MIZ-type containing 1
ENSG00000110395	Cbl proto-oncogene,RAS related,RAS related,tet methylcytosine dioxygenase 2
ENSG00000110400	msh homeobox 1,nectin cell adhesion molecule 1,Rho GTPase activating protein 29,tumor protein p63
ENSG00000110435	Pyruvate dehydrogenase E3-binding protein deficiency
ENSG00000110436	actin like 6B
ENSG00000110514	zinc finger MIZ-type containing 1
ENSG00000110619	M-phase specific PLK1 interacting protein,tropomyosin 3
ENSG00000110628	cadherin 1,Embryonal rhabdomyosarcoma
ENSG00000110651	CD19 molecule
ENSG00000110711	aryl hydrocarbon receptor interacting protein,aryl hydrocarbon receptor interacting protein,cadherin related 23,cadherin related 23,Null pituitary adenoma,Silent pituitary adenoma
ENSG00000110717	transmembrane protein 126B
ENSG00000110719	chloride voltage-gated channel 7,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3,TNF receptor superfamily member 11a
ENSG00000110721	Autosomal recessive non-syndromic intellectual disability
ENSG00000110723	exophilin 5
ENSG00000110756	Hermansky-Pudlak syndrome due to BLOC-2 deficiency
ENSG00000110777	interleukin 12 receptor subunit beta 1
ENSG00000110799	Von Willebrand disease type 1,Von Willebrand disease type 2A,Von Willebrand disease type 2B,Von Willebrand disease type 2M,Von Willebrand disease type 2N,Von Willebrand disease type 3
ENSG00000110887	cyclin F
ENSG00000110911	solute carrier family 11 member 2
ENSG00000110921	Hyperimmunoglobulinemia D with periodic fever,mevalonate kinase,mevalonate kinase,Mevalonic aciduria
ENSG00000111012	cytochrome P450 family 27 subfamily B member 1
ENSG00000111046	ryanodine receptor 1
ENSG00000111087	dynein cytoplasmic 2 light intermediate chain 1,GLI family zinc finger 1,GLI family zinc finger 1,GLI family zinc finger 1
ENSG00000111199	transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4,transient receptor potential cation channel subfamily V member 4
ENSG00000111245	filamin C,mitogen-activated protein kinase kinase kinase 20
ENSG00000111249	cut like homeobox 2
ENSG00000111252	SH2B adaptor protein 3,tet methylcytosine dioxygenase 2
ENSG00000111254	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000111262	Dmx like 2,potassium voltage-gated channel subfamily A member 1,potassium voltage-gated channel subfamily A member 1,potassium voltage-gated channel subfamily A member 1,proline rich transmembrane protein 2
ENSG00000111276	cyclin dependent kinase inhibitor 1B,cyclin dependent kinase inhibitor 1B
ENSG00000111319	CF transmembrane conductance regulator,Generalized pseudohypoaldosteronism type 1,hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium channel epithelial 1 subunit beta
ENSG00000111341	matrix Gla protein
ENSG00000111361	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000111424	vitamin D receptor
ENSG00000111537	interferon gamma,perforin 1
ENSG00000111581	membrane associated guanylate kinase, WW and PDZ domain containing 2,nuclear receptor subfamily 5 group A member 1,O-sialoglycoprotein endopeptidase
ENSG00000111596	CCR4-NOT transcription complex subunit 2
ENSG00000111642	chromodomain helicase DNA binding protein 4
ENSG00000111664	rhodopsin
ENSG00000111669	triosephosphate isomerase 1
ENSG00000111670	Mucolipidosis type III alpha/beta,N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ENSG00000111676	atrophin 1
ENSG00000111678	chromosome 12 open reading frame 57
ENSG00000111700	solute carrier organic anion transporter family member 1B1
ENSG00000111713	glycogen synthase 2
ENSG00000111716	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
ENSG00000111732	Hyper-IgM syndrome type 2
ENSG00000111752	Autosomal recessive primary microcephaly
ENSG00000111775	cytochrome c oxidase subunit 6A1
ENSG00000111799	collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type XII alpha 1 chain
ENSG00000111802	tyrosyl-DNA phosphodiesterase 2
ENSG00000111817	carbohydrate sulfotransferase 14
ENSG00000111834	dynein axonemal heavy chain 1
ENSG00000111837	S-phase cyclin A associated protein in the ER
ENSG00000111846	Total early-onset cataract
ENSG00000111860	microtubule actin crosslinking factor 1
ENSG00000111877	minichromosome maintenance 9 homologous recombination repair factor
ENSG00000111913	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000111961	SAM and SH3 domain containing 1,SAM and SH3 domain containing 1
ENSG00000112039	RAD51 recombinase
ENSG00000112041	S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000112053	cilia and flagella associated protein 251
ENSG00000112077	Rh associated glycoprotein,Rh blood group CcEe antigens
ENSG00000112116	C-type lectin domain containing 7A
ENSG00000112137	neurotrophic receptor tyrosine kinase 2
ENSG00000112144	ciliogenesis associated kinase 1,ciliogenesis associated kinase 1
ENSG00000112186	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000112210	multiple EGF like domains 8
ENSG00000112234	F-box and leucine rich repeat protein 4
ENSG00000112246	Obesity due to SIM1 deficiency,SIM bHLH transcription factor 1,SIM bHLH transcription factor 1
ENSG00000112276	blood vessel epicardial substance
ENSG00000112280	Autosomal recessive Stickler syndrome,collagen type IX alpha 1 chain
ENSG00000112282	Autosomal recessive non-syndromic intellectual disability
ENSG00000112290	zinc finger MIZ-type containing 1
ENSG00000112294	aldehyde dehydrogenase 5 family member A1
ENSG00000112312	origin recognition complex subunit 4
ENSG00000112319	EYA transcriptional coactivator and phosphatase 4,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000112320	sine oculis binding protein homolog
ENSG00000112357	phytanoyl-CoA 2-hydroxylase,Rhizomelic chondrodysplasia punctata type 1
ENSG00000112365	DNA methyltransferase 3 beta
ENSG00000112367	Bilateral parasagittal parieto-occipital polymicrogyria,cyclin F,FIG4 phosphoinositide 5-phosphatase,FIG4 phosphoinositide 5-phosphatase
ENSG00000112378	p53 apoptosis effector related to PMP22
ENSG00000112425	EPM2A glucan phosphatase, laforin
ENSG00000112473	Autosomal agammaglobulinemia
ENSG00000112486	Diffuse cutaneous systemic sclerosis,Limited cutaneous systemic sclerosis
ENSG00000112531	MYB proto-oncogene, transcription factor
ENSG00000112541	phosphodiesterase 10A,phosphodiesterase 10A
ENSG00000112561	proline rich mitotic checkpoint control factor
ENSG00000112562	Atypical dentin dysplasia due to SMOC2 deficiency
ENSG00000112592	TATA-box binding protein
ENSG00000112599	S-phase cyclin A associated protein in the ER
ENSG00000112619	cyclic nucleotide gated channel subunit beta 3,guanylate cyclase activator 1A,peripherin 2,peripherin 2,peripherin 2,peripherin 2,peripherin 2,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000112640	protein phosphatase 2 regulatory subunit B'delta
ENSG00000112706	interphotoreceptor matrix proteoglycan 1,peripherin 2,S-phase cyclin A associated protein in the ER
ENSG00000112761	cellular communication network factor 6
ENSG00000112769	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000112773	Osteogenesis imperfecta type 3
ENSG00000112782	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000112855	Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000112902	semaphorin 5A
ENSG00000112936	complement C5
ENSG00000112964	growth hormone receptor,growth hormone receptor
ENSG00000112981	dynein axonemal heavy chain 1
ENSG00000112984	filamin C
ENSG00000112992	steroidogenic acute regulatory protein
ENSG00000113013	heat shock protein family A (Hsp70) member 9,solute carrier family 25 member 38
ENSG00000113083	forkhead box E3
ENSG00000113140	Osteogenesis imperfecta type 4
ENSG00000113161	3-hydroxy-3-methylglutaryl-CoA reductase
ENSG00000113231	phosphodiesterase 8B
ENSG00000113262	rhodopsin
ENSG00000113263	IL2 inducible T cell kinase
ENSG00000113273	Mucopolysaccharidosis type 6, rapidly progressing,Mucopolysaccharidosis type 6, slowly progressing
ENSG00000113302	interleukin 12B,major histocompatibility complex, class I, B
ENSG00000113318	MSH3-related attenuated familial adenomatous polyposis
ENSG00000113327	actin like 6B,gamma-aminobutyric acid type A receptor subunit alpha1,gamma-aminobutyric acid type A receptor subunit gamma2,hyperpolarization activated cyclic nucleotide gated potassium channel 1,sodium voltage-gated channel alpha subunit 1
ENSG00000113368	Autosomal dominant primary microcephaly,lamin B1
ENSG00000113407	M-phase specific PLK1 interacting protein
ENSG00000113448	phosphodiesterase 4D,phosphodiesterase 4D
ENSG00000113494	prolactin receptor
ENSG00000113522	MRE11 homolog, double strand break repair nuclease,phosphatase and tensin homolog
ENSG00000113555	GS homeobox 2
ENSG00000113569	ATP binding cassette subfamily C member 9
ENSG00000113575	zinc finger MIZ-type containing 1
ENSG00000113580	cadherin related 23,nuclear receptor subfamily 3 group C member 1
ENSG00000113594	interleukin 6 cytokine family signal transducer
ENSG00000113600	ATP binding cassette subfamily A member 4,complement C5
ENSG00000113621	thioredoxin domain containing 15
ENSG00000113643	arginyl-tRNA synthetase 1
ENSG00000113648	macroH2A.1 histone
ENSG00000113719	SCY1 like pseudokinase 2
ENSG00000113721	fibroblast growth factor receptor 1,junctional adhesion molecule 2,notch receptor 3,platelet derived growth factor receptor beta,platelet derived growth factor receptor beta,platelet derived growth factor receptor beta,platelet derived growth factor receptor beta,platelet derived growth factor receptor beta
ENSG00000113790	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,hydroxysteroid 17-beta dehydrogenase 4
ENSG00000113845	transmembrane protein 126B
ENSG00000113851	Autosomal recessive non-syndromic intellectual disability
ENSG00000113889	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,kininogen 1
ENSG00000113905	histidine rich glycoprotein
ENSG00000113916	BCL2 apoptosis regulator,BCL6 transcription repressor,BCL6 transcription repressor,MYC proto-oncogene, bHLH transcription factor
ENSG00000113924	homogentisate 1,2-dioxygenase
ENSG00000113946	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
ENSG00000113966	Bardet-Biedl syndrome 1,S-phase cyclin A associated protein in the ER
ENSG00000113971	centrosomal protein 290,Infantile nephronophthisis,Late-onset nephronophthisis,nephrocystin 3,nephrocystin 3
ENSG00000114026	8-oxoguanine DNA glycosylase
ENSG00000114054	propionyl-CoA carboxylase subunit alpha
ENSG00000114062	Angelman syndrome due to a point mutation,Angelman syndrome due to imprinting defect in 15q11-q13,Angelman syndrome due to maternal 15q11q13 deletion,Angelman syndrome due to paternal uniparental disomy of chromosome 15,ubiquitin protein ligase E3A
ENSG00000114200	butyrylcholinesterase
ENSG00000114209	CCM2 scaffold protein
ENSG00000114251	Autosomal dominant Robinow syndrome
ENSG00000114270	collagen type VII alpha 1 chain,collagen type VII alpha 1 chain,collagen type VII alpha 1 chain,collagen type VII alpha 1 chain,collagen type VII alpha 1 chain,collagen type VII alpha 1 chain,Localized dystrophic epidermolysis bullosa, acral form,Localized dystrophic epidermolysis bullosa, nails only,Localized dystrophic epidermolysis bullosa, pretibial form
ENSG00000114279	actin like 6B
ENSG00000114349	rhodopsin
ENSG00000114354	eukaryotic translation initiation factor 1A X-linked,trafficking from ER to golgi regulator,trafficking from ER to golgi regulator,trafficking from ER to golgi regulator,trafficking from ER to golgi regulator
ENSG00000114374	Role in the phenotype of
ENSG00000114378	hyaluronidase 1
ENSG00000114388	DEP domain containing 5, GATOR1 subcomplex subunit
ENSG00000114446	intraflagellar transport 57
ENSG00000114450	G protein subunit beta 4
ENSG00000114480	Adult polyglucosan body disease,Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form,Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form,Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form,Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
ENSG00000114491	uridine monophosphate synthetase
ENSG00000114554	zinc finger MIZ-type containing 1
ENSG00000114573	actin like 6B,Autosomal recessive cutis laxa type 2, classic type
ENSG00000114686	mitochondrial ribosomal protein L3
ENSG00000114738	MAPK activated protein kinase 3
ENSG00000114739	polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000114742	WD repeat domain 48
ENSG00000114796	kelch like family member 24
ENSG00000114805	Alobar holoprosencephaly
ENSG00000114841	cilia and flagella associated protein 251,dynein axonemal heavy chain 1
ENSG00000114854	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000114859	chloride voltage-gated channel 2,chloride voltage-gated channel 2,ciliogenesis associated kinase 1
ENSG00000114861	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,forkhead box P1,MALT1 paracaspase
ENSG00000114867	synuclein alpha
ENSG00000114923	solute carrier family 4 member 3
ENSG00000114942	Autosomal recessive non-syndromic intellectual disability
ENSG00000114956	deoxyguanosine kinase,deoxyguanosine kinase
ENSG00000114988	Autosomal recessive non-syndromic intellectual disability
ENSG00000115020	phosphoinositide kinase, FYVE-type zinc finger containing
ENSG00000115085	zeta chain of T-cell receptor associated protein kinase 70
ENSG00000115107	STEAP3 metalloreductase
ENSG00000115138	Obesity due to pro-opiomelanocortin deficiency
ENSG00000115155	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000115170	activin A receptor type 1
ENSG00000115204	mitochondrial inner membrane protein MPV17
ENSG00000115211	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000115221	Hypocalcified amelogenesis imperfecta,Hypoplastic amelogenesis imperfecta,integrin subunit beta 6
ENSG00000115255	S-phase cyclin A associated protein in the ER
ENSG00000115266	nuclear receptor binding SET domain protein 1
ENSG00000115267	interferon induced with helicase C domain 1,LSM11, U7 small nuclear RNA associated
ENSG00000115268	purinergic receptor P2X 7
ENSG00000115275	mannosyl-oligosaccharide glucosidase
ENSG00000115286	transmembrane protein 126B
ENSG00000115306	zinc finger MIZ-type containing 1
ENSG00000115317	HtrA serine peptidase 2,synaptojanin 1
ENSG00000115339	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ENSG00000115355	coiled-coil domain containing 88A
ENSG00000115380	complement factor I,cytochrome P450 family 1 subfamily B member 1
ENSG00000115392	RAD51 recombinase
ENSG00000115414	collagen type II alpha 1 chain,fibronectin 1
ENSG00000115415	signal transducer and activator of transcription 1,signal transducer and activator of transcription 1,target of myb1 membrane trafficking protein
ENSG00000115419	glutaminase,glutaminase
ENSG00000115459	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000115474	potassium inwardly rectifying channel subfamily J member 13,ubiquitin specific peptidase 45
ENSG00000115486	gamma-glutamyl carboxylase,gamma-glutamyl carboxylase,gamma-glutamyl carboxylase
ENSG00000115524	cysteinyl leukotriene receptor 2,tet methylcytosine dioxygenase 2
ENSG00000115525	ST3 beta-galactoside alpha-2,3-sialyltransferase 5
ENSG00000115641	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000115648	Griscelli syndrome type 3
ENSG00000115657	actin gamma 1,actin gamma 1,ATP binding cassette subfamily B member 6 (Langereis blood group),ATP binding cassette subfamily B member 6 (Langereis blood group),frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,sonic hedgehog signaling molecule
ENSG00000115665	dynactin subunit 1,Presynaptic congenital myasthenic syndromes
ENSG00000115705	solute carrier family 5 member 5
ENSG00000115718	protein C, inactivator of coagulation factors Va and VIIIa,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000115758	ornithine decarboxylase 1
ENSG00000115827	DDB1 and CUL4 associated factor 17
ENSG00000115839	RAB3 GTPase activating protein catalytic subunit 1,RAB3 GTPase activating protein catalytic subunit 1
ENSG00000115840	solute carrier family 25 member 12
ENSG00000115850	lactase,lactase
ENSG00000115866	aspartyl-tRNA synthetase 1
ENSG00000115902	solute carrier family 1 member 4
ENSG00000115904	Candidate gene tested in,RAS related
ENSG00000115919	kynureninase,kynureninase
ENSG00000115935	WASP actin nucleation promoting factor
ENSG00000115947	origin recognition complex subunit 4
ENSG00000116001	TIA1 cytotoxic granule associated RNA binding protein,TIA1 cytotoxic granule associated RNA binding protein
ENSG00000116014	Genetic central precocious puberty in male,makorin ring finger protein 3,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000116016	endothelial PAS domain protein 1,erythropoietin,succinate dehydrogenase complex subunit D
ENSG00000116030	small ubiquitin like modifier 1
ENSG00000116039	Autosomal recessive distal renal tubular acidosis
ENSG00000116044	NFE2 like bZIP transcription factor 2
ENSG00000116062	mutS homolog 6,PMS1 homolog 2, mismatch repair system component
ENSG00000116096	sepiapterin reductase
ENSG00000116106	cyclin F
ENSG00000116120	phenylalanyl-tRNA synthetase subunit beta
ENSG00000116127	ALMS1 centrosome and basal body associated protein
ENSG00000116132	orthodenticle homeobox 2
ENSG00000116133	24-dehydrocholesterol reductase
ENSG00000116171	sterol carrier protein 2
ENSG00000116198	centrosomal protein 120
ENSG00000116218	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000116254	zinc finger MIZ-type containing 1
ENSG00000116288	Parkinsonism associated deglycase,synaptojanin 1
ENSG00000116337	adenosine monophosphate deaminase 2,adenosine monophosphate deaminase 2
ENSG00000116353	mitochondrial trans-2-enoyl-CoA reductase
ENSG00000116406	zinc finger MIZ-type containing 1
ENSG00000116539	Autosomal dominant non-syndromic intellectual disability
ENSG00000116560	proline rich mitotic checkpoint control factor
ENSG00000116586	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ENSG00000116641	dedicator of cytokinesis 7
ENSG00000116670	RAD51 recombinase
ENSG00000116675	podocalyxin like,synaptojanin 1
ENSG00000116678	Obesity due to leptin receptor gene deficiency
ENSG00000116688	mitofusin 2,mitofusin 2,mitofusin 2,mitofusin 2,solute carrier family 25 member 46
ENSG00000116690	proteoglycan 4
ENSG00000116701	cytochrome b-245 beta chain
ENSG00000116704	solute carrier family 35 member D1
ENSG00000116711	phospholipase A2 group IVA,phospholipase A2 group IVA
ENSG00000116745	retinoid isomerohydrolase RPE65,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000116748	adenosine monophosphate deaminase 1
ENSG00000116761	cystathionine gamma-lyase
ENSG00000116783	TNNI3 interacting kinase
ENSG00000116785	Atypical hemolytic uremic syndrome with anti-factor H antibodies,C3 glomerulonephritis
ENSG00000116786	pleckstrin homology and RUN domain containing M2
ENSG00000116874	tryptophanyl tRNA synthetase 2, mitochondrial
ENSG00000116906	Rhizomelic chondrodysplasia punctata type 2
ENSG00000116962	Isolated Dandy-Walker malformation without hydrocephalus
ENSG00000116984	Methylcobalamin deficiency type cblG
ENSG00000117013	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000117020	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphoinositide-3-kinase regulatory subunit 2
ENSG00000117054	acyl-CoA dehydrogenase medium chain
ENSG00000117118	phosphatase and tensin homolog,solute carrier family 25 member 11,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex iron sulfur subunit B,succinate dehydrogenase complex subunit D
ENSG00000117139	Autosomal dominant non-syndromic intellectual disability,Autosomal recessive non-syndromic intellectual disability
ENSG00000117298	ATPase copper transporting alpha
ENSG00000117305	3-hydroxy-3-methylglutaryl-CoA lyase
ENSG00000117308	Erythrocyte galactose epimerase deficiency,Generalized galactose epimerase deficiency
ENSG00000117322	CD19 molecule,PX domain containing serine/threonine kinase like
ENSG00000117335	Atypical hemolytic uremic syndrome with complement gene abnormality,CD46 molecule
ENSG00000117360	S-phase cyclin A associated protein in the ER
ENSG00000117385	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3
ENSG00000117394	gamma-aminobutyric acid type A receptor subunit alpha1,solute carrier family 2 member 1,solute carrier family 2 member 1,solute carrier family 2 member 1,solute carrier family 2 member 1,solute carrier family 2 member 1,solute carrier family 2 member 1
ENSG00000117400	Janus kinase 2,Janus kinase 2,tet methylcytosine dioxygenase 2,thrombopoietin,thrombopoietin,thrombopoietin
ENSG00000117425	patched 1,patched 2
ENSG00000117479	solute carrier family 19 member 2
ENSG00000117560	caspase 10
ENSG00000117586	hypocretin neuropeptide precursor,PX domain containing serine/threonine kinase like
ENSG00000117593	aspartyl-tRNA synthetase 2, mitochondrial
ENSG00000117594	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
ENSG00000117595	fibroblast growth factor receptor 1,interferon regulatory factor 6,interferon regulatory factor 6,msh homeobox 1,Rho GTPase activating protein 29,small ubiquitin like modifier 1,tumor protein p63
ENSG00000117601	serpin family C member 1
ENSG00000117620	solute carrier family 35 member A3
ENSG00000117650	S-phase cyclin A associated protein in the ER
ENSG00000117682	actin like 6B,S-phase cyclin A associated protein in the ER
ENSG00000117713	AT-rich interaction domain 2
ENSG00000117724	centromere protein F,centromere protein F
ENSG00000117899	Osteogenesis imperfecta type 2
ENSG00000117983	Hypersensitivity pneumonitis,mucin like 3,surfactant protein A1
ENSG00000117984	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000118004	collectin subfamily member 10
ENSG00000118007	STAG1 cohesin complex component
ENSG00000118046	serine/threonine kinase 11
ENSG00000118058	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),lysine methyltransferase 2A,lysine methyltransferase 2A,lysine methyltransferase 2A,lysine methyltransferase 2A,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Mixed phenotype acute leukemia with t(v;11q23.3)
ENSG00000118094	trehalase
ENSG00000118137	AApoAI amyloidosis,apolipoprotein A1
ENSG00000118162	kaptin, actin binding protein
ENSG00000118193	Autosomal recessive primary microcephaly,kinesin family member 14
ENSG00000118194	filamin C,filamin C,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000118197	DEAD-box helicase 59
ENSG00000118217	phosphodiesterase 6C,retinitis pigmentosa GTPase regulator
ENSG00000118231	Cerulean cataract,Coralliform cataract,crystallin alpha A,Early-onset lamellar cataract,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000118246	FAST kinase domains 2
ENSG00000118260	EWS RNA binding protein 1
ENSG00000118271	transthyretin,transthyretin,transthyretin
ENSG00000118402	cyclic nucleotide gated channel subunit beta 3,ELOVL fatty acid elongase 4,ELOVL fatty acid elongase 4
ENSG00000118495	ATP binding cassette subfamily C member 8,hydatidiform mole associated and imprinted
ENSG00000118503	E74 like ETS transcription factor 4,PX domain containing serine/threonine kinase like
ENSG00000118513	ABL proto-oncogene 1, non-receptor tyrosine kinase,MYB proto-oncogene, transcription factor,MYB proto-oncogene, transcription factor
ENSG00000118520	arginase 1
ENSG00000118523	Diffuse cutaneous systemic sclerosis,Limited cutaneous systemic sclerosis
ENSG00000118557	Male infertility due to acephalic spermatozoa
ENSG00000118600	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000118690	cilia and flagella associated protein 251
ENSG00000118729	calsequestrin 2
ENSG00000118762	glucosidase II alpha subunit
ENSG00000118785	PX domain containing serine/threonine kinase like,spermidine/spermine N1-acetyltransferase 1
ENSG00000118873	RAB3 GTPase activating non-catalytic protein subunit 2,RAB3 GTPase activating protein catalytic subunit 1,RAB3 GTPase activating protein catalytic subunit 1
ENSG00000118965	intraflagellar transport 122,intraflagellar transport 80,WD repeat domain 35
ENSG00000118971	phosphoinositide-3-kinase regulatory subunit 2
ENSG00000118972	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,fibroblast growth factor 23
ENSG00000119013	transmembrane protein 126B
ENSG00000119042	SATB2-associated syndrome due to a chromosomal rearrangement,SATB2-associated syndrome due to a pathogenic variant,SATB homeobox 2
ENSG00000119121	transient receptor potential cation channel subfamily M member 6
ENSG00000119139	epoxide hydrolase 1,Progressive familial intrahepatic cholestasis type 4,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000119203	zinc finger MIZ-type containing 1
ENSG00000119333	intraflagellar transport 80,KIAA0753
ENSG00000119335	ABL proto-oncogene 1, non-receptor tyrosine kinase,Autosomal dominant non-syndromic intellectual disability
ENSG00000119392	cyclin F,GLE1 RNA export mediator,GLE1 RNA export mediator
ENSG00000119401	Bardet-Biedl syndrome 1,tripartite motif containing 32
ENSG00000119508	trafficking from ER to golgi regulator
ENSG00000119509	centrosomal protein 290,Infantile nephronophthisis
ENSG00000119523	ALG2 alpha-1,3/1,6-mannosyltransferase,Congenital myasthenic syndromes with glycosylation defect
ENSG00000119535	colony stimulating factor 3 receptor,colony stimulating factor 3 receptor,colony stimulating factor 3 receptor,colony stimulating factor 3 receptor
ENSG00000119537	gap junction protein alpha 1,transient receptor potential cation channel subfamily M member 4
ENSG00000119541	Dentin dysplasia type I
ENSG00000119614	sonic hedgehog signaling molecule
ENSG00000119638	NIMA related kinase 9,NIMA related kinase 9
ENSG00000119650	intraflagellar transport 122
ENSG00000119655	Niemann-Pick disease type C, adult neurologic onset,Niemann-Pick disease type C, juvenile neurologic onset,Niemann-Pick disease type C, late infantile neurologic onset,Niemann-Pick disease type C, severe early infantile neurologic onset,Niemann-Pick disease type C, severe perinatal form
ENSG00000119661	dynein axonemal heavy chain 1
ENSG00000119669	interferon regulatory factor 2 binding protein like
ENSG00000119681	ADAM metallopeptidase with thrombospondin type 1 motif 10,cytochrome P450 family 1 subfamily B member 1,latent transforming growth factor beta binding protein 2
ENSG00000119684	mutS homolog 6
ENSG00000119685	retinitis pigmentosa GTPase regulator
ENSG00000119686	FLVCR heme transporter 2
ENSG00000119688	Methylmalonic acidemia with homocystinuria, type cblJ
ENSG00000119689	solute carrier family 25 member 11
ENSG00000119699	forkhead box E3,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,transforming growth factor beta 2
ENSG00000119711	aldehyde dehydrogenase 6 family member A1
ENSG00000119714	Hypomaturation amelogenesis imperfecta
ENSG00000119715	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000119718	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000119723	coenzyme Q6, monooxygenase,NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ENSG00000119772	DNA methyltransferase 3 alpha,succinate dehydrogenase complex subunit D,tet methylcytosine dioxygenase 2
ENSG00000119866	BCL11 transcription factor A,hemoglobin subunit beta
ENSG00000119888	epithelial cell adhesion molecule,mutS homolog 6
ENSG00000119899	Free sialic acid storage disease, infantile form,Intermediate severe Salla disease,Salla disease
ENSG00000119969	DNA methyltransferase 3 beta
ENSG00000119977	centrosomal protein 120,family with sequence similarity 149 member B1,tectonic family member 3,thioredoxin domain containing 15
ENSG00000120008	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism,WD repeat domain 11
ENSG00000120071	17q21.31 microdeletion syndrome,Koolen-De Vries syndrome due to a point mutation
ENSG00000120094	homeobox B1
ENSG00000120149	ALX homeobox 4,msh homeobox 2,msh homeobox 2
ENSG00000120156	cytochrome P450 family 1 subfamily B member 1,TEK receptor tyrosine kinase,TEK receptor tyrosine kinase
ENSG00000120370	golgin, RAB6 interacting
ENSG00000120457	ATP binding cassette subfamily C member 9,potassium inwardly rectifying channel subfamily J member 2,potassium inwardly rectifying channel subfamily J member 5,potassium inwardly rectifying channel subfamily J member 5,triadin
ENSG00000120498	sperm associated antigen 17
ENSG00000120539	Autosomal thrombocytopenia with normal platelets
ENSG00000120659	chloride voltage-gated channel 7
ENSG00000120669	inhibin subunit alpha
ENSG00000120686	tubulin beta 4A class IVa
ENSG00000120693	Heritable pulmonary arterial hypertension
ENSG00000120697	glucosidase II alpha subunit
ENSG00000120699	ATP/GTP binding carboxypeptidase 1
ENSG00000120708	transforming growth factor beta induced,transforming growth factor beta induced,transforming growth factor beta induced,transforming growth factor beta induced,transforming growth factor beta induced,transforming growth factor beta induced
ENSG00000120725	SIL1 nucleotide exchange factor
ENSG00000120729	myotilin,myotilin,myotilin
ENSG00000120733	lysine demethylase 3B
ENSG00000120756	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000120802	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000120889	Squamous cell carcinoma of salivary glands,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b
ENSG00000120903	cholinergic receptor nicotinic alpha 4 subunit
ENSG00000120925	ring finger protein 170
ENSG00000120942	UbiA prenyltransferase domain containing 1
ENSG00000120948	cyclin F,valosin containing protein
ENSG00000121075	Familial clubfoot due to 17q23.1q23.2 microduplication,Heritable pulmonary arterial hypertension,T-box transcription factor 4,T-box transcription factor 4
ENSG00000121101	sperm associated antigen 17
ENSG00000121207	retinoid isomerohydrolase RPE65,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000121361	ATP binding cassette subfamily C member 9,hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000121454	forkhead box A2,LIM homeobox 4,POU class 1 homeobox 1,WD repeat domain 11
ENSG00000121481	zinc finger MIZ-type containing 1
ENSG00000121552	cystatin A,serpin family B member 8
ENSG00000121634	crystallin alpha A,Early-onset nuclear cataract,Early-onset sutural cataract,gap junction protein alpha 8,Pulverulent cataract,Total early-onset cataract
ENSG00000121680	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 16,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000121691	catalase
ENSG00000121741	zinc finger MIZ-type containing 1
ENSG00000121742	gap junction protein beta 2,gap junction protein beta 6,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000121743	Early-onset nuclear cataract,Early-onset posterior polar cataract,Pulverulent cataract
ENSG00000121853	growth hormone secretagogue receptor
ENSG00000121879	axin 1,CCM2 scaffold protein,Macrodactyly of fingers, unilateral,Macrodactyly of toes, unilateral,mutS homolog 6,phosphatase and tensin homolog,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000121897	lipoic acid synthetase
ENSG00000121905	hippocalcin
ENSG00000121957	G protein signaling modulator 2,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000121966	C-X-C motif chemokine receptor 4
ENSG00000122025	ABL proto-oncogene 1, non-receptor tyrosine kinase,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),fms related receptor tyrosine kinase 3,fms related receptor tyrosine kinase 3,fms related receptor tyrosine kinase 3,fms related receptor tyrosine kinase 3,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Mixed phenotype acute leukemia with t(v;11q23.3),RUNX family transcription factor 1
ENSG00000122026	lanosterol synthase
ENSG00000122121	X-prolyl aminopeptidase 2
ENSG00000122122	SAM and SH3 domain containing 3
ENSG00000122126	Dent disease type 2,OCRL inositol polyphosphate-5-phosphatase
ENSG00000122145	T-box transcription factor 22,T-box transcription factor 22
ENSG00000122194	plasminogen,PLG-related hereditary angioedema with normal C1Inh
ENSG00000122218	COPI coat complex subunit alpha
ENSG00000122335	serine active site containing 1
ENSG00000122359	cyclin F
ENSG00000122367	filamin C,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,LIM domain binding 3,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000122406	ribosomal protein L18
ENSG00000122507	Bardet-Biedl syndrome 1
ENSG00000122512	mutS homolog 6,PMS1 homolog 2, mismatch repair system component
ENSG00000122550	kelch like family member 7,kelch like family member 7,kelch like family member 7,kelch like family member 7,S-phase cyclin A associated protein in the ER
ENSG00000122566	valosin containing protein
ENSG00000122591	hyccin PI4KA lipid kinase complex subunit 1
ENSG00000122641	inhibin subunit beta A
ENSG00000122643	5'-nucleotidase, cytosolic IIIA
ENSG00000122691	ALX homeobox 4,fibroblast growth factor receptor 3,fibroblast growth factor receptor 3
ENSG00000122735	dynein axonemal heavy chain 1
ENSG00000122778	Pilomyxoid astrocytoma,S-phase cyclin A associated protein in the ER
ENSG00000122779	eukaryotic translation initiation factor 1A X-linked
ENSG00000122787	aldo-keto reductase family 1 member D1
ENSG00000122852	surfactant protein A1
ENSG00000122859	neurogenin 3
ENSG00000122861	plasminogen activator, urokinase
ENSG00000122863	carbohydrate sulfotransferase 3
ENSG00000122870	glucosidase II alpha subunit
ENSG00000122877	early growth response 2,early growth response 2,peripheral myelin protein 22
ENSG00000122966	Autosomal recessive primary microcephaly
ENSG00000122971	acyl-CoA dehydrogenase short chain
ENSG00000123066	Isolated congenitally uncorrected transposition of the great arteries,mediator complex subunit 13L
ENSG00000123080	cyclin dependent kinase inhibitor 1B
ENSG00000123104	inositol 1,4,5-trisphosphate receptor type 2
ENSG00000123159	notch 2 N-terminal like C
ENSG00000123191	ATPase copper transporting beta
ENSG00000123240	cyclin F,cytochrome P450 family 1 subfamily B member 1
ENSG00000123268	EWS RNA binding protein 1
ENSG00000123297	Ts translation elongation factor, mitochondrial
ENSG00000123338	NCK associated protein 1 like
ENSG00000123342	matrix metallopeptidase 19
ENSG00000123364	keratin 85
ENSG00000123384	LDL receptor related protein 1,membrane bound transcription factor peptidase, site 2
ENSG00000123453	sarcosine dehydrogenase
ENSG00000123454	dopamine beta-hydroxylase
ENSG00000123472	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000123473	ABL proto-oncogene 1, non-receptor tyrosine kinase,Alobar holoprosencephaly,Autosomal recessive primary microcephaly,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000123500	collagen type X alpha 1 chain
ENSG00000123545	transmembrane protein 126B
ENSG00000123552	ubiquitin specific peptidase 45
ENSG00000123560	Null syndrome,Pelizaeus-Merzbacher disease, classic form,Pelizaeus-Merzbacher disease, connatal form,Pelizaeus-Merzbacher disease in female carriers,Pelizaeus-Merzbacher disease, transitional form,proteolipid protein 1,proteolipid protein 1
ENSG00000123561	serpin family A member 7
ENSG00000123607	Infantile nephronophthisis,KIAA0753
ENSG00000123700	ATP binding cassette subfamily C member 9,potassium inwardly rectifying channel subfamily J member 2,solute carrier family 4 member 3
ENSG00000123737	ATP/GTP binding carboxypeptidase 1
ENSG00000123810	centrosomal protein 120,thioredoxin domain containing 15
ENSG00000123815	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000123908	zinc finger MIZ-type containing 1
ENSG00000123999	inhibin subunit alpha
ENSG00000124006	cullin 7
ENSG00000124089	melanocortin 3 receptor
ENSG00000124140	sodium voltage-gated channel alpha subunit 2
ENSG00000124155	phosphatidylinositol glycan anchor biosynthesis class T
ENSG00000124164	cyclin F,VAMP associated protein B and C
ENSG00000124172	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000124198	Periventricular nodular heterotopia
ENSG00000124205	ATPase copper transporting alpha,ladybird homeobox 1,SRY-box transcription factor 10
ENSG00000124222	GNAS complex locus
ENSG00000124253	phosphoenolpyruvate carboxykinase 1
ENSG00000124275	Methylcobalamin deficiency type cblE
ENSG00000124299	peptidase D
ENSG00000124302	Peeling skin syndrome type A
ENSG00000124313	DEAF1 transcription factor,IQ motif and Sec7 domain ArfGEF 2,IQ motif and Sec7 domain ArfGEF 2,X-linked non-syndromic intellectual disability
ENSG00000124333	DEAH-box helicase 37
ENSG00000124356	STAM binding protein
ENSG00000124370	methylmalonyl-CoA epimerase
ENSG00000124429	inhibin subunit alpha
ENSG00000124479	catenin beta 1,frizzled class receptor 4,LDL receptor related protein 5,norrin cystine knot growth factor NDP,norrin cystine knot growth factor NDP
ENSG00000124486	ubiquitin specific peptidase 9 X-linked,X-linked non-syndromic intellectual disability
ENSG00000124491	coagulation factor XIII A chain
ENSG00000124570	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000124587	peroxisomal biogenesis factor 1,peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 6
ENSG00000124608	alanyl-tRNA synthetase 2, mitochondrial,alanyl-tRNA synthetase 2, mitochondrial,Ovarioleukodystrophy
ENSG00000124614	ribosomal protein L18
ENSG00000124615	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
ENSG00000124713	glycine N-methyltransferase
ENSG00000124762	cyclin dependent kinase inhibitor 1B
ENSG00000124766	AT-rich interaction domain 2
ENSG00000124782	T-box transcription factor 1
ENSG00000124788	ataxin 1
ENSG00000124795	nucleoporin 214
ENSG00000124813	RUNX family transcription factor 2,RUNX family transcription factor 2
ENSG00000124827	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,glial cells missing transcription factor 2
ENSG00000124920	myelin regulatory factor
ENSG00000125046	Dentin dysplasia type I
ENSG00000125084	Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4,Wnt family member 3A
ENSG00000125107	CCR4-NOT transcription complex subunit 1
ENSG00000125124	Bardet-Biedl syndrome 1,S-phase cyclin A associated protein in the ER
ENSG00000125255	solute carrier family 10 member 2
ENSG00000125351	bromodomain and WD repeat domain containing 3,mediator complex subunit 12,X-linked non-syndromic intellectual disability
ENSG00000125352	M-phase specific PLK1 interacting protein
ENSG00000125356	transmembrane protein 126B
ENSG00000125363	Hypomaturation amelogenesis imperfecta
ENSG00000125378	bone morphogenetic protein 4,Renal agenesis, unilateral,Rho GTPase activating protein 29
ENSG00000125398	DEAH-box helicase 37,DEAH-box helicase 37,SRY-box transcription factor 9,SRY-box transcription factor 9,SRY-box transcription factor 9,SRY-box transcription factor 9
ENSG00000125414	myosin heavy chain 2,myosin heavy chain 2
ENSG00000125445	mitochondrial ribosomal protein S7
ENSG00000125450	DNA replication helicase/nuclease 2,membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000125454	solute carrier family 25 member 19,solute carrier family 25 member 19
ENSG00000125459	misato mitochondrial distribution and morphology regulator 1
ENSG00000125505	Autosomal recessive non-syndromic intellectual disability
ENSG00000125618	eukaryotic translation initiation factor 1A X-linked,forkhead box E1,NK2 homeobox 5,solute carrier family 26 member 4
ENSG00000125630	RNA polymerase I subunit B
ENSG00000125656	Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000125675	glutamate ionotropic receptor AMPA type subunit 3
ENSG00000125676	THO complex subunit 2
ENSG00000125726	CD70 molecule
ENSG00000125730	ATP binding cassette subfamily A member 4,Atypical hemolytic uremic syndrome with complement gene abnormality,complement C3
ENSG00000125741	mitochondrial contact site and cristae organizing system subunit 13,outer mitochondrial membrane lipid metabolism regulator OPA3
ENSG00000125744	ubiquitin associated protein 1
ENSG00000125779	Atypical pantothenate kinase-associated neurodegeneration,Classic pantothenate kinase-associated neurodegeneration
ENSG00000125780	peptidyl arginine deiminase 3
ENSG00000125798	forkhead box A2
ENSG00000125812	GDNF inducible zinc finger protein 1
ENSG00000125813	EYA transcriptional coactivator and phosphatase 1
ENSG00000125826	RANBP2-type and C3HC4-type zinc finger containing 1,RANBP2-type and C3HC4-type zinc finger containing 1
ENSG00000125835	small nuclear ribonucleoprotein polypeptides B and B1
ENSG00000125845	bone morphogenetic protein 2,bone morphogenetic protein 2
ENSG00000125848	Kallmann syndrome
ENSG00000125850	ovo like zinc finger 2,visual system homeobox 1
ENSG00000125863	Bardet-Biedl syndrome 1,MKKS centrosomal shuttling protein
ENSG00000125864	Early-onset nuclear cataract
ENSG00000125871	mitochondrial genome maintenance exonuclease 1
ENSG00000125875	RAB3 GTPase activating protein catalytic subunit 1
ENSG00000125877	inosine triphosphatase
ENSG00000125885	inhibin subunit alpha
ENSG00000125952	solute carrier family 25 member 11
ENSG00000125965	bone morphogenetic protein 2,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B,growth differentiation factor 5,growth differentiation factor 5,growth differentiation factor 5,growth differentiation factor 5
ENSG00000126012	lysine demethylase 5C
ENSG00000126088	Familial porphyria cutanea tarda,uroporphyrinogen decarboxylase
ENSG00000126091	Autosomal recessive non-syndromic intellectual disability,neurotrophic receptor tyrosine kinase 2
ENSG00000126218	coagulation factor X
ENSG00000126231	coagulation factor II, thrombin,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000126233	secreted LY6/PLAUR domain containing 1,secreted LY6/PLAUR domain containing 1
ENSG00000126261	plectin
ENSG00000126267	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000126351	thyroid hormone receptor alpha
ENSG00000126458	RAS related,RAS related
ENSG00000126500	fibronectin leucine rich transmembrane protein 1
ENSG00000126522	argininosuccinate lyase
ENSG00000126524	perforin 1,SBDS ribosome maturation factor,SBDS ribosome maturation factor
ENSG00000126562	Pseudohypoaldosteronism type 2B
ENSG00000126583	protein kinase C gamma
ENSG00000126603	Acute megakaryoblastic leukemia without Down syndrome,Juvenile nephronophthisis
ENSG00000126705	AT-hook DNA binding motif containing 1
ENSG00000126749	EMG1 N1-specific pseudouridine methyltransferase
ENSG00000126752	SS18 subunit of BAF chromatin remodeling complex
ENSG00000126759	complement factor properdin
ENSG00000126778	EYA transcriptional coactivator and phosphatase 1,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,SIX homeobox 1
ENSG00000126814	tRNA methyltransferase 5
ENSG00000126870	intraflagellar transport 80,KIAA0753
ENSG00000126883	ABL proto-oncogene 1, non-receptor tyrosine kinase,nucleoporin 214
ENSG00000126895	arginine vasopressin receptor 2,arginine vasopressin receptor 2
ENSG00000126934	B-Raf proto-oncogene, serine/threonine kinase,mitogen-activated protein kinase kinase 2
ENSG00000126953	translocase of inner mitochondrial membrane 8A
ENSG00000126970	zinc finger C4H2-type containing
ENSG00000127125	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000127241	collectin subfamily member 10
ENSG00000127415	Hurler-Scheie syndrome,Hurler syndrome,Scheie syndrome
ENSG00000127463	ER membrane protein complex subunit 1
ENSG00000127472	phospholipase A2 group V
ENSG00000127507	adhesion G protein-coupled receptor E2
ENSG00000127511	SIN3A-related intellectual disability syndrome due to a point mutation
ENSG00000127527	distal-less homeobox 6
ENSG00000127554	growth factor, augmenter of liver regeneration
ENSG00000127603	microtubule actin crosslinking factor 1
ENSG00000127616	AT-rich interaction domain 2,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000127663	zinc finger MIZ-type containing 1
ENSG00000127666	unc-93 homolog B1, TLR signaling regulator
ENSG00000127838	PNKD metallo-beta-lactamase domain containing
ENSG00000127870	WW domain containing oxidoreductase
ENSG00000127884	enoyl-CoA hydratase, short chain 1
ENSG00000127914	hyperpolarization activated cyclic nucleotide gated potassium channel 4,triadin
ENSG00000127922	distal-less homeobox 6
ENSG00000127948	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,cytochrome p450 oxidoreductase
ENSG00000127980	peroxisomal biogenesis factor 1,peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000127990	sarcoglycan epsilon
ENSG00000128039	steroid 5 alpha-reductase 3
ENSG00000128052	fms related receptor tyrosine kinase 4,kinase insert domain receptor
ENSG00000128159	polo like kinase 4
ENSG00000128271	adenosine A2a receptor
ENSG00000128322	Autosomal agammaglobulinemia
ENSG00000128340	Rac family small GTPase 2
ENSG00000128422	keratin 16,keratin 17
ENSG00000128513	cyclin dependent kinase 4,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,purinergic receptor P2X 7
ENSG00000128567	podocalyxin like,synaptojanin 1
ENSG00000128573	forkhead box P2,forkhead box P2
ENSG00000128591	filamin C,filamin C,filamin C,filamin C
ENSG00000128602	ATPase copper transporting alpha,smoothened, frizzled class receptor,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000128604	Diffuse cutaneous systemic sclerosis,interleukin 12 receptor subunit beta 1,interleukin 23 receptor,interleukin 6,Limited cutaneous systemic sclerosis,PX domain containing serine/threonine kinase like
ENSG00000128610	Kallmann syndrome
ENSG00000128617	opsin 1, short wave sensitive
ENSG00000128654	metaxin 2
ENSG00000128655	protein kinase cAMP-dependent type I regulatory subunit alpha
ENSG00000128656	chimerin 1
ENSG00000128683	KN motif and ankyrin repeat domains 1
ENSG00000128710	Congenital vertical talus, bilateral,Congenital vertical talus, unilateral
ENSG00000128714	homeobox D13,homeobox D13,homeobox D13,homeobox D13,homeobox D13,Synpolydactyly type 1,Zygodactyly type 3
ENSG00000128731	HECT and RLD domain containing E3 ubiquitin protein ligase 2
ENSG00000128739	Angelman syndrome due to imprinting defect in 15q11-q13,Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Prader-Willi syndrome due to translocation
ENSG00000128829	bone morphogenetic protein receptor type 2,eukaryotic translation initiation factor 2 alpha kinase 4,Heritable pulmonary arterial hypertension
ENSG00000128881	tau tubulin kinase 2
ENSG00000128891	zinc finger MIZ-type containing 1
ENSG00000128908	INO80 complex ATPase subunit
ENSG00000128917	notch receptor 1,plectin
ENSG00000128928	isovaleryl-CoA dehydrogenase
ENSG00000128944	kinetochore localized astrin (SPAG5) binding protein
ENSG00000128973	cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000129003	synaptojanin 1
ENSG00000129038	lysyl oxidase like 1
ENSG00000129083	COPI coat complex subunit beta 1
ENSG00000129116	BRCA1 DNA repair associated
ENSG00000129152	solute carrier family 18 member A3
ENSG00000129159	potassium voltage-gated channel subfamily C member 1
ENSG00000129170	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000129204	ubiquitin specific peptidase 6
ENSG00000129221	retinitis pigmentosa GTPase regulator,ubiquitin specific peptidase 45
ENSG00000129250	kinesin family member 1C
ENSG00000129255	mannose-P-dolichol utilization defect 1
ENSG00000129295	dynein axonemal heavy chain 1
ENSG00000129535	S-phase cyclin A associated protein in the ER
ENSG00000129654	dynein axonemal heavy chain 1
ENSG00000129667	rhomboid 5 homolog 2
ENSG00000129675	X-linked non-syndromic intellectual disability
ENSG00000129682	actin like 6B
ENSG00000129696	TELO2 interacting protein 2
ENSG00000129757	Beckwith-Wiedemann syndrome due to CDKN1C mutation,cyclin dependent kinase inhibitor 1C,cyclin dependent kinase inhibitor 1C,Silver-Russell syndrome due to a point mutation
ENSG00000129810	shugoshin 1
ENSG00000129910	Autosomal dominant non-syndromic intellectual disability
ENSG00000129932	zinc finger MIZ-type containing 1
ENSG00000129991	filamin C,filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000129993	Acute megakaryoblastic leukemia without Down syndrome
ENSG00000130005	guanidinoacetate N-methyltransferase
ENSG00000130023	ER membrane associated RNA degradation,Periventricular nodular heterotopia
ENSG00000130037	ATP binding cassette subfamily C member 9
ENSG00000130066	membrane bound transcription factor peptidase, site 2,spermidine/spermine N1-acetyltransferase 1
ENSG00000130158	notch receptor 1
ENSG00000130164	ATP binding cassette subfamily G member 5,signal transducing adaptor family member 1
ENSG00000130175	protein kinase C substrate 80K-H
ENSG00000130203	apolipoprotein E,apolipoprotein E,apolipoprotein E,glucosylceramidase beta 1,signal transducing adaptor family member 1,sortilin related receptor 1
ENSG00000130204	ATP binding cassette subfamily A member 7
ENSG00000130226	Autosomal dominant primary microcephaly,sodium voltage-gated channel alpha subunit 5
ENSG00000130283	growth differentiation factor 1,Isolated congenitally uncorrected transposition of the great arteries,kinase insert domain receptor
ENSG00000130294	Autosomal dominant non-syndromic intellectual disability,kinesin family member 1A,kinesin family member 1A,sodium voltage-gated channel alpha subunit 9
ENSG00000130299	GTP binding protein 3, mitochondrial
ENSG00000130300	plasmalemma vesicle associated protein
ENSG00000130347	YME1 like 1 ATPase
ENSG00000130348	glutaminyl-tRNA amidotransferase subunit QRSL1
ENSG00000130363	dynein axonemal heavy chain 1
ENSG00000130385	inhibin subunit alpha,nuclear receptor subfamily 5 group A member 1
ENSG00000130402	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000130427	erythropoietin
ENSG00000130449	zinc finger SWIM-type containing 6
ENSG00000130475	FCH and mu domain containing endocytic adaptor 1
ENSG00000130477	cyclin F
ENSG00000130508	peroxidasin
ENSG00000130529	hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel beta subunit 1,transient receptor potential cation channel subfamily M member 4
ENSG00000130561	rhodopsin,S-antigen visual arrestin,S-phase cyclin A associated protein in the ER
ENSG00000130595	sodium leak channel, non-selective,sodium leak channel, non-selective
ENSG00000130598	sodium leak channel, non-selective,sodium leak channel, non-selective
ENSG00000130600	Beckwith-Wiedemann syndrome due to 11p15 microdeletion,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,BRCA2 DNA repair associated,insulin like growth factor 2,Silver-Russell syndrome due to 11p15 microduplication,Silver-Russell syndrome due to an imprinting defect of 11p15
ENSG00000130635	collagen type V alpha 2 chain
ENSG00000130638	ataxin 10
ENSG00000130675	motor neuron and pancreas homeobox 1
ENSG00000130699	zinc finger MIZ-type containing 1
ENSG00000130700	ATP binding cassette subfamily C member 9,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,kinase insert domain receptor,NK2 homeobox 5
ENSG00000130702	laminin subunit alpha 5
ENSG00000130703	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000130707	Acute neonatal citrullinemia type I,Late-onset citrullinemia type I
ENSG00000130711	PR/SET domain 12
ENSG00000130713	exosome component 2
ENSG00000130714	CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1,protein O-mannosyltransferase 1,protein O-mannosyltransferase 1
ENSG00000130726	BRCA2 DNA repair associated,BRCA2 DNA repair associated
ENSG00000130741	eukaryotic translation initiation factor 2 subunit gamma
ENSG00000130779	Autosomal recessive non-syndromic intellectual disability
ENSG00000130812	angiopoietin like 6
ENSG00000130816	DNA methyltransferase 1,DNA methyltransferase 1
ENSG00000130821	solute carrier family 6 member 8
ENSG00000130826	dyskerin pseudouridine synthase 1,nucleophosmin 1
ENSG00000130921	mitochondrial translation release factor in rescue,mitochondrial translation release factor in rescue
ENSG00000130939	arginine-glutamic acid dipeptide repeats
ENSG00000130940	arginine-glutamic acid dipeptide repeats
ENSG00000130948	hydroxysteroid 17-beta dehydrogenase 3
ENSG00000130985	ubiquitin like modifier activating enzyme 1,ubiquitin like modifier activating enzyme 1
ENSG00000131018	Autosomal dominant Emery-Dreifuss muscular dystrophy,spectrin repeat containing nuclear envelope protein 1,spectrin repeat containing nuclear envelope protein 1
ENSG00000131055	cytochrome c oxidase subunit 4I2
ENSG00000131061	zinc finger protein 341
ENSG00000131080	X-linked hypohidrotic ectodermal dysplasia
ENSG00000131089	Cdc42 guanine nucleotide exchange factor 9
ENSG00000131095	Alexander disease type I,Alexander disease type II
ENSG00000131100	Autosomal recessive cutis laxa type 2, classic type
ENSG00000131127	GLI family zinc finger 1
ENSG00000131143	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000131165	charged multivesicular body protein 1A
ENSG00000131174	holocytochrome c synthase
ENSG00000131183	cytochrome P450 family 24 subfamily A member 1,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,solute carrier family 34 member 1,solute carrier family 34 member 3
ENSG00000131187	coagulation factor XII,coagulation factor XII,F12-related hereditary angioedema with normal C1Inh,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000131238	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000131263	zinc finger MIZ-type containing 1
ENSG00000131269	ATP binding cassette subfamily B member 7
ENSG00000131323	unc-93 homolog B1, TLR signaling regulator
ENSG00000131381	vacuolar protein sorting 45 homolog
ENSG00000131398	potassium voltage-gated channel subfamily C member 3
ENSG00000131462	NIPA magnesium transporter 1
ENSG00000131469	ribosomal protein L18
ENSG00000131470	nuclear receptor subfamily 5 group A member 1
ENSG00000131482	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
ENSG00000131495	NADH:ubiquinone oxidoreductase subunit A2
ENSG00000131504	diaphanous related formin 1,diaphanous related formin 1,diaphanous related formin 1
ENSG00000131652	THO complex subunit 6
ENSG00000131653	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,TNF receptor associated factor 7
ENSG00000131697	centrosomal protein 290,Juvenile nephronophthisis
ENSG00000131711	Periventricular nodular heterotopia,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000131747	MYCN proto-oncogene, bHLH transcription factor
ENSG00000131759	PML nuclear body scaffold
ENSG00000131779	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000131808	follicle stimulating hormone subunit beta
ENSG00000131828	Pyruvate dehydrogenase E1-alpha deficiency
ENSG00000131844	methylcrotonyl-CoA carboxylase subunit 1
ENSG00000131873	chondroitin sulfate synthase 1
ENSG00000131931	THAP domain containing 1
ENSG00000131943	chromosome 19 open reading frame 12,chromosome 19 open reading frame 12
ENSG00000131979	GTP cyclohydrolase 1,GTP cyclohydrolase I deficiency
ENSG00000132002	DnaJ heat shock protein family (Hsp40) member B1
ENSG00000132024	Autosomal recessive non-syndromic intellectual disability
ENSG00000132031	matrilin 3,matrilin 3
ENSG00000132153	DExH-box helicase 30
ENSG00000132155	B-Raf proto-oncogene, serine/threonine kinase,Pilomyxoid astrocytoma,protein tyrosine phosphatase non-receptor type 11,RAS related,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000132170	caveolae associated protein 1,eukaryotic translation initiation factor 1A X-linked,Giant cell glioblastoma,Gliosarcoma,peroxisome proliferator activated receptor gamma
ENSG00000132326	period circadian regulator 3
ENSG00000132376	SIL1 nucleotide exchange factor
ENSG00000132386	Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000132437	dopa decarboxylase
ENSG00000132464	Hypoplastic amelogenesis imperfecta
ENSG00000132466	zinc finger MIZ-type containing 1
ENSG00000132470	collagen type XVII alpha 1 chain,collagen type XVII alpha 1 chain,integrin subunit alpha 6,plectin,plectin
ENSG00000132471	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000132507	zinc finger MIZ-type containing 1
ENSG00000132517	solute carrier family 52 member 1
ENSG00000132518	guanylate cyclase activator 1A,retinitis pigmentosa GTPase regulator,ubiquitin specific peptidase 45
ENSG00000132535	zinc finger MIZ-type containing 1
ENSG00000132549	vacuolar protein sorting 13 homolog B
ENSG00000132563	receptor accessory protein 2
ENSG00000132591	Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000132600	protein arginine methyltransferase 7
ENSG00000132639	Presynaptic congenital myasthenic syndromes
ENSG00000132646	proliferating cell nuclear antigen
ENSG00000132669	Ras and Rab interactor 2
ENSG00000132716	DDB1 and CUL4 associated factor 8
ENSG00000132740	immunoglobulin mu DNA binding protein 2,immunoglobulin mu DNA binding protein 2
ENSG00000132763	Methylmalonic acidemia with homocystinuria, type cblC
ENSG00000132768	diphthamide biosynthesis 1
ENSG00000132773	target of EGR1, exonuclease
ENSG00000132781	bone morphogenetic protein receptor type 1A,MUTYH-related attenuated familial adenomatous polyposis
ENSG00000132837	dimethylglycine dehydrogenase
ENSG00000132842	Hermansky-Pudlak syndrome due to AP-3 deficiency
ENSG00000132855	microsomal triglyceride transfer protein
ENSG00000132912	serpin family A member 1
ENSG00000132915	S-phase cyclin A associated protein in the ER
ENSG00000132932	very low density lipoprotein receptor
ENSG00000132963	proteasome maturation protein
ENSG00000133019	cholinergic receptor muscarinic 3
ENSG00000133020	myosin heavy chain 8,myosin heavy chain 8
ENSG00000133028	synthesis of cytochrome C oxidase 1
ENSG00000133059	dual serine/threonine and tyrosine protein kinase,Renal agenesis, unilateral
ENSG00000133103	component of oligomeric golgi complex 6,component of oligomeric golgi complex 6
ENSG00000133104	spartin
ENSG00000133111	regulatory factor X5
ENSG00000133116	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
ENSG00000133138	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000133216	cadherin 1
ENSG00000133256	rhodopsin,S-phase cyclin A associated protein in the ER
ENSG00000133392	fms related receptor tyrosine kinase 3,forkhead box E3,leiomodin 1,myosin heavy chain 11
ENSG00000133422	MORC family CW-type zinc finger 2
ENSG00000133424	CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1
ENSG00000133454	myosin XVIIIB
ENSG00000133657	Heritable pulmonary arterial hypertension
ENSG00000133703	B-Raf proto-oncogene, serine/threonine kinase,BRCA1 DNA repair associated,eukaryotic translation initiation factor 1A X-linked,fibroblast growth factor receptor 1,HRas proto-oncogene, GTPase,KRAS proto-oncogene, GTPase,KRAS proto-oncogene, GTPase,mutS homolog 6,Pilomyxoid astrocytoma,RAS related,RAS related
ENSG00000133704	transforming growth factor beta 2
ENSG00000133706	leucyl-tRNA synthetase 1
ENSG00000133710	serine peptidase inhibitor Kazal type 5
ENSG00000133731	Autosomal recessive non-syndromic intellectual disability
ENSG00000133805	adenosine monophosphate deaminase 1
ENSG00000133812	SET binding factor 2
ENSG00000133818	RAS related
ENSG00000133835	hydroxysteroid 17-beta dehydrogenase 4,Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000133863	sperm associated antigen 17
ENSG00000133884	AT-rich interaction domain 2
ENSG00000133895	aryl hydrocarbon receptor interacting protein,cadherin related 23,cyclin dependent kinase inhibitor 1B,glial cells missing transcription factor 2,Null pituitary adenoma,Silent pituitary adenoma,YY1 transcription factor
ENSG00000133937	goosecoid homeobox
ENSG00000134049	immediate early response 3 interacting protein 1
ENSG00000134086	cyclin D1,solute carrier family 25 member 11,succinate dehydrogenase complex subunit D,von Hippel-Lindau tumor suppressor
ENSG00000134138	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
ENSG00000134160	rhodopsin
ENSG00000134183	phosphodiesterase 6C,phosphodiesterase 6C
ENSG00000134200	thyroid stimulating hormone subunit beta
ENSG00000134202	serpin family A member 1
ENSG00000134240	3-hydroxy-3-methylglutaryl-CoA synthase 2
ENSG00000134242	Fas cell surface death receptor,major histocompatibility complex, class II, DP alpha 1,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22,PX domain containing serine/threonine kinase like
ENSG00000134250	Alagille syndrome due to a NOTCH2 point mutation,notch receptor 2
ENSG00000134259	neurotrophic receptor tyrosine kinase 1
ENSG00000134262	adaptor related protein complex 4 subunit mu 1
ENSG00000134287	Autosomal dominant non-syndromic intellectual disability
ENSG00000134313	kinase D interacting substrate 220
ENSG00000134323	Feingold syndrome type 1,Hereditary retinoblastoma,MYCN proto-oncogene, bHLH transcription factor,Non-hereditary retinoblastoma
ENSG00000134324	mitochondrially encoded cytochrome c oxidase I
ENSG00000134333	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
ENSG00000134343	anoctamin 3
ENSG00000134352	interleukin 6 cytokine family signal transducer,interleukin 6 cytokine family signal transducer,zinc finger protein 341
ENSG00000134365	Atypical hemolytic uremic syndrome with anti-factor H antibodies
ENSG00000134371	cell division cycle 73,cell division cycle 73,glial cells missing transcription factor 2
ENSG00000134376	crumbs cell polarity complex component 1,membrane frizzled-related protein,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000134389	Atypical hemolytic uremic syndrome with anti-factor H antibodies,C3 glomerulonephritis
ENSG00000134419	ribosomal protein L18
ENSG00000134438	membrane frizzled-related protein,sonic hedgehog signaling molecule
ENSG00000134460	interleukin 2 receptor subunit alpha,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22
ENSG00000134504	potassium channel tetramerization domain containing 1
ENSG00000134516	dedicator of cytokinesis 2
ENSG00000134532	12p12.1 microdeletion syndrome,Developmental and speech delay due to SOX5 deficiency
ENSG00000134538	solute carrier organic anion transporter family member 1B1
ENSG00000134569	APC regulator of WNT signaling pathway,Postsynaptic congenital myasthenic syndromes,sclerostin
ENSG00000134571	filamin C,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000134574	XPA, DNA damage recognition and repair factor
ENSG00000134595	prokineticin receptor 2,SRY-box transcription factor 3,SRY-box transcription factor 9,X-linked congenital generalized hypertrichosis,X-linked intellectual disability with isolated growth hormone deficiency
ENSG00000134644	pumilio RNA binding family member 1,pumilio RNA binding family member 1
ENSG00000134684	tyrosyl-tRNA synthetase 1
ENSG00000134755	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ENSG00000134760	desmoglein 1,desmoglein 1,desmoplakin,desmoplakin
ENSG00000134762	desmocollin 3
ENSG00000134769	pleckstrin homology and RUN domain containing M2
ENSG00000134812	cobalamin binding intrinsic factor
ENSG00000134851	transmembrane protein 165
ENSG00000134853	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,factor interacting with PAPOLA and CPSF1,fibroblast growth factor receptor 1,platelet derived growth factor receptor alpha,Rho GTPase activating protein 29,succinate dehydrogenase complex flavoprotein subunit A
ENSG00000134871	Familial porencephaly
ENSG00000134873	claudin 10
ENSG00000134882	interleukin 10
ENSG00000134899	COFS syndrome,ERCC excision repair 5, endonuclease,XPA, DNA damage recognition and repair factor
ENSG00000134900	tripeptidyl peptidase 2
ENSG00000134905	cysteinyl-tRNA synthetase 2, mitochondrial
ENSG00000134910	STT3 oligosaccharyltransferase complex catalytic subunit A
ENSG00000134954	PX domain containing serine/threonine kinase like
ENSG00000134982	APC regulator of WNT signaling pathway,APC regulator of WNT signaling pathway,APC-related attenuated familial adenomatous polyposis,catenin beta 1,Familial adenomatous polyposis due to 5q22.2 microdeletion,Gardner syndrome,Turcot syndrome with polyposis
ENSG00000134987	cytochrome P450 family 1 subfamily B member 1
ENSG00000135049	ATP/GTP binding carboxypeptidase 1
ENSG00000135069	Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,Phosphoserine aminotransferase deficiency, infantile/juvenile form
ENSG00000135070	iron-sulfur cluster assembly 1
ENSG00000135077	hepatitis A virus cellular receptor 2
ENSG00000135100	ATP binding cassette subfamily C member 8,Clear cell papillary renal cell carcinoma,HNF1 homeobox A,HNF1 homeobox A
ENSG00000135111	T-box transcription factor 3
ENSG00000135249	NBAS subunit of NRZ tethering complex
ENSG00000135297	mitochondrial tRNA translation optimization 1
ENSG00000135316	zinc finger MIZ-type containing 1
ENSG00000135317	sorting nexin 14
ENSG00000135318	5'-nucleotidase ecto
ENSG00000135338	retinoid isomerohydrolase RPE65,ubiquitin specific peptidase 45
ENSG00000135341	mitogen-activated protein kinase kinase kinase 7,mitogen-activated protein kinase kinase kinase 7
ENSG00000135365	ALX homeobox 4
ENSG00000135387	zinc finger MIZ-type containing 1
ENSG00000135406	cyclin F
ENSG00000135409	anti-Mullerian hormone
ENSG00000135424	integrin subunit alpha 7,mitogen-activated protein kinase kinase kinase 20
ENSG00000135437	peripherin 2,peripherin 2
ENSG00000135443	keratin 85
ENSG00000135446	cyclin dependent kinase 4,Dedifferentiated liposarcoma,Well-differentiated liposarcoma
ENSG00000135454	beta-1,4-N-acetyl-galactosaminyltransferase 1
ENSG00000135486	cyclin F,valosin containing protein
ENSG00000135517	Cerulean cataract,Early-onset lamellar cataract,Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset sutural cataract,Total early-onset cataract
ENSG00000135535	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000135541	Abelson helper integration site 1,centrosomal protein 120,S-phase cyclin A associated protein in the ER
ENSG00000135547	forkhead box E3
ENSG00000135604	perforin 1
ENSG00000135636	dysferlin,dysferlin,dysferlin,dysferlin
ENSG00000135677	Sanfilippo syndrome type D
ENSG00000135679	cyclin dependent kinase inhibitor 2A,Dedifferentiated liposarcoma,Well-differentiated liposarcoma
ENSG00000135697	beta-carotene oxygenase 1
ENSG00000135744	angiotensin II receptor type 1,Renal tubular dysgenesis of genetic origin
ENSG00000135766	erythropoietin
ENSG00000135775	component of oligomeric golgi complex 2
ENSG00000135821	glutamate-ammonia ligase
ENSG00000135828	cadherin 1
ENSG00000135845	Autosomal recessive non-syndromic intellectual disability
ENSG00000135899	SP110 nuclear body protein
ENSG00000135900	mitochondrial ribosomal protein L44
ENSG00000135902	nebulin,Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000135903	Alveolar rhabdomyosarcoma,paired box 3,Waardenburg syndrome type 1,Waardenburg syndrome type 3
ENSG00000135917	solute carrier family 19 member 3,solute carrier family 19 member 3,solute carrier family 19 member 3
ENSG00000135924	DnaJ heat shock protein family (Hsp40) member B2,DnaJ heat shock protein family (Hsp40) member B2
ENSG00000135925	Autosomal recessive hypohidrotic ectodermal dysplasia,fibroblast growth factor receptor 1,small ubiquitin like modifier 1,Wnt family member 10A,Wnt family member 10A
ENSG00000135929	cytochrome P450 family 27 subfamily A member 1
ENSG00000135931	centrosomal protein 120
ENSG00000135956	Clear cell papillary renal cell carcinoma,solute carrier family 25 member 11
ENSG00000135960	Autosomal dominant hypohidrotic ectodermal dysplasia,Autosomal recessive hypohidrotic ectodermal dysplasia
ENSG00000136003	iron-sulfur cluster assembly enzyme
ENSG00000136021	SCY1 like pseudokinase 2
ENSG00000136051	Autosomal recessive non-syndromic intellectual disability
ENSG00000136068	filamin B,filamin B,filamin B,filamin B,myosin heavy chain 3
ENSG00000136104	LSM11, U7 small nuclear RNA associated
ENSG00000136114	angiopoietin like 6,Non-immune hydrops fetalis
ENSG00000136143	succinate-CoA ligase ADP-forming subunit beta
ENSG00000136144	RCC1 and BTB domain containing protein 1
ENSG00000136156	ABri amyloidosis,ADan amyloidosis,integral membrane protein 2B
ENSG00000136160	ATPase copper transporting alpha,SRY-box transcription factor 10,Waardenburg syndrome type 2
ENSG00000136235	glycoprotein nmb
ENSG00000136238	Rac family small GTPase 1
ENSG00000136244	interleukin 6,major histocompatibility complex, class II, DR beta 1
ENSG00000136280	CCM2 scaffold protein
ENSG00000136319	Autosomal recessive non-syndromic intellectual disability
ENSG00000136352	eukaryotic translation initiation factor 1A X-linked,forkhead box E1,NK2 homeobox 1,NK2 homeobox 1
ENSG00000136371	methenyltetrahydrofolate synthetase
ENSG00000136425	Disease-causing germline mutation(s) in,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000136451	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000136492	phosphatase and tensin homolog,RAD51 recombinase
ENSG00000136518	zinc finger MIZ-type containing 1
ENSG00000136531	Dmx like 2,hyperpolarization activated cyclic nucleotide gated potassium channel 1,neurotrophic receptor tyrosine kinase 2,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel alpha subunit 2,sodium voltage-gated channel alpha subunit 2,sodium voltage-gated channel alpha subunit 8
ENSG00000136535	T-box brain transcription factor 1,zinc finger MIZ-type containing 1
ENSG00000136573	ATP binding cassette subfamily C member 8,PX domain containing serine/threonine kinase like
ENSG00000136574	ATP binding cassette subfamily C member 9,Atrial septal defect, ostium secundum type,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,Complete atrioventricular septal defect-tetralogy of Fallot,Complete atrioventricular septal defect with ventricular hypoplasia,DEAH-box helicase 37,GATA binding protein 4,kinase insert domain receptor,Partial atrioventricular septal defect with ventricular hypoplasia
ENSG00000136630	H2.0 like homeobox
ENSG00000136631	vacuolar protein sorting 45 homolog
ENSG00000136634	interleukin 10,interleukin 10,PX domain containing serine/threonine kinase like
ENSG00000136689	interleukin 1 receptor antagonist
ENSG00000136695	interleukin 36 receptor antagonist,interleukin 36 receptor antagonist,interleukin 36 receptor antagonist,interleukin 36 receptor antagonist
ENSG00000136698	Congenitally uncorrected transposition of the great arteries with cardiac malformation,Congenitally uncorrected transposition of the great arteries with coarctation,cripto, FRL-1, cryptic family 1,Isolated congenitally uncorrected transposition of the great arteries,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000136710	coiled-coil domain containing 115
ENSG00000136717	ryanodine receptor 1,titin
ENSG00000136720	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000136732	spectrin alpha, erythrocytic 1
ENSG00000136758	YME1 like 1 ATPase
ENSG00000136802	Autosomal agammaglobulinemia
ENSG00000136827	sarcoglycan epsilon,torsin family 1 member A
ENSG00000136854	LIM homeobox transcription factor 1 beta,syntaxin binding protein 1
ENSG00000136861	Autosomal recessive primary microcephaly
ENSG00000136869	interleukin 10
ENSG00000136872	aldolase, fructose-bisphosphate B
ENSG00000136875	S-phase cyclin A associated protein in the ER
ENSG00000136881	epoxide hydrolase 1
ENSG00000136908	dolichyl-phosphate mannosyltransferase subunit 2, regulatory
ENSG00000136928	actin like 6B,methyl-CpG binding protein 2
ENSG00000136931	DEAH-box helicase 37,DEAH-box helicase 37,inhibin subunit alpha,nuclear receptor subfamily 5 group A member 1,sperm associated antigen 17,SRY-box transcription factor 9,SRY-box transcription factor 9
ENSG00000136936	XPA, DNA damage recognition and repair factor
ENSG00000136942	ribosomal protein L18
ENSG00000136944	LIM homeobox transcription factor 1 beta,LIM homeobox transcription factor 1 beta,LIM homeobox transcription factor 1 beta
ENSG00000136997	ABL proto-oncogene 1, non-receptor tyrosine kinase,MYC proto-oncogene, bHLH transcription factor,MYC proto-oncogene, bHLH transcription factor
ENSG00000137055	phospholipase A2 activating protein
ENSG00000137070	interleukin 11 receptor subunit alpha
ENSG00000137074	aprataxin
ENSG00000137090	DEAH-box helicase 37
ENSG00000137106	Primary hyperoxaluria type 2
ENSG00000137161	neurotrophic receptor tyrosine kinase 2
ENSG00000137203	transcription factor AP-2 alpha
ENSG00000137265	interferon regulatory factor 4
ENSG00000137275	receptor interacting serine/threonine kinase 1
ENSG00000137285	collagen type XXV alpha 1 chain,tubulin alpha 1a,tubulin beta 2B class IIb,very low density lipoprotein receptor
ENSG00000137288	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000137473	cilia and flagella associated protein 251
ENSG00000137474	Disease-causing germline mutation(s) in,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Usher syndrome type 2
ENSG00000137497	PML nuclear body scaffold
ENSG00000137513	asparaginyl-tRNA synthetase 2, mitochondrial,ATP binding cassette subfamily C member 8,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000137561	alpha tocopherol transfer protein
ENSG00000137601	cyclin F,NIMA related kinase 1,TRAF3 interacting protein 1
ENSG00000137642	ATP binding cassette subfamily A member 7,sortilin related receptor 1
ENSG00000137648	transmembrane serine protease 4
ENSG00000137672	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000137674	Hypomaturation amelogenesis imperfecta
ENSG00000137691	dynein axonemal heavy chain 1
ENSG00000137693	transcription factor binding to IGHM enhancer 3,Yes1 associated transcriptional regulator
ENSG00000137700	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ENSG00000137710	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000137731	FXYD domain containing ion transport regulator 2
ENSG00000137745	matrix metallopeptidase 13,matrix metallopeptidase 13,matrix metallopeptidase 13,matrix metallopeptidase 13
ENSG00000137760	Autosomal recessive non-syndromic intellectual disability
ENSG00000137802	Juvenile nephronophthisis,Late-onset nephronophthisis
ENSG00000137806	transmembrane protein 126B
ENSG00000137807	kinesin family member 23
ENSG00000137812	Autosomal recessive primary microcephaly
ENSG00000137822	polo like kinase 4
ENSG00000137834	NK2 homeobox 5
ENSG00000137845	ADAM metallopeptidase domain 10
ENSG00000137868	signaling receptor and transporter of retinol STRA6,sonic hedgehog signaling molecule
ENSG00000137869	cytochrome P450 family 19 subfamily A member 1,cytochrome P450 family 19 subfamily A member 1
ENSG00000137962	Rho GTPase activating protein 29
ENSG00000137992	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000138002	Bardet-Biedl syndrome 1,intraflagellar transport 140,KIAA0753,S-phase cyclin A associated protein in the ER
ENSG00000138018	selenoprotein I
ENSG00000138029	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ENSG00000138030	ketohexokinase
ENSG00000138032	solute carrier family 3 member 1
ENSG00000138035	Disease-causing germline mutation(s) in,polyribonucleotide nucleotidyltransferase 1,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000138036	dynein cytoplasmic 2 light intermediate chain 1,KIAA0753
ENSG00000138039	inhibin subunit alpha,Leydig cell hypoplasia due to complete LH resistance,Leydig cell hypoplasia due to partial LH resistance,luteinizing hormone/choriogonadotropin receptor
ENSG00000138061	cytochrome P450 family 1 subfamily B member 1,cytochrome P450 family 1 subfamily B member 1,cytochrome P450 family 1 subfamily B member 1,forkhead box C1
ENSG00000138075	ATP binding cassette subfamily G member 5,ATP binding cassette subfamily G member 5
ENSG00000138078	prolyl endopeptidase like,solute carrier family 3 member 1,solute carrier family 3 member 1,solute carrier family 3 member 1
ENSG00000138079	Cystinuria type A,solute carrier family 3 member 1,solute carrier family 3 member 1,solute carrier family 3 member 1
ENSG00000138080	elastin microfibril interfacer 1
ENSG00000138083	Acquired schizencephaly,Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000138095	leucine rich pentatricopeptide repeat containing
ENSG00000138119	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
ENSG00000138136	ladybird homeobox 1
ENSG00000138138	ATPase family AAA domain containing 1
ENSG00000138160	kinesin family member 11
ENSG00000138175	centrosomal protein 120,S-phase cyclin A associated protein in the ER
ENSG00000138180	centrosomal protein 55
ENSG00000138185	ectonucleoside triphosphate diphosphohydrolase 1
ENSG00000138193	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000138207	retinol binding protein 4,sonic hedgehog signaling molecule
ENSG00000138246	synuclein alpha
ENSG00000138286	family with sequence similarity 149 member B1
ENSG00000138303	activating signal cointegrator 1 complex subunit 1
ENSG00000138311	hypocretin neuropeptide precursor,hypocretin neuropeptide precursor
ENSG00000138326	ribosomal protein L18
ENSG00000138346	DNA replication helicase/nuclease 2,DNA replication helicase/nuclease 2
ENSG00000138347	filamin C,filamin C,myopalladin,TATA-box binding protein associated factor, RNA polymerase I subunit A,tropomyosin 2
ENSG00000138363	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ENSG00000138375	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
ENSG00000138376	phosphatase and tensin homolog
ENSG00000138378	interleukin 10,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22,PX domain containing serine/threonine kinase like,spermidine/spermine N1-acetyltransferase 1
ENSG00000138382	Autosomal recessive primary microcephaly
ENSG00000138413	Giant cell glioblastoma,Gliosarcoma,isocitrate dehydrogenase (NADP(+)) 1,isocitrate dehydrogenase (NADP(+)) 2,parathyroid hormone 1 receptor,tet methylcytosine dioxygenase 2
ENSG00000138435	nebulin,Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000138449	solute carrier family 40 member 1,solute carrier family 40 member 1
ENSG00000138463	8-oxoguanine DNA glycosylase
ENSG00000138592	cadherin related 23,ubiquitin specific peptidase 8
ENSG00000138622	hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel alpha subunit 5
ENSG00000138639	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000138640	surfactant protein A1
ENSG00000138675	fibroblast growth factor 5
ENSG00000138684	interleukin 21
ENSG00000138686	Bardet-Biedl syndrome 1
ENSG00000138688	bridge-like lipid transfer protein family member 1
ENSG00000138696	bone morphogenetic protein 2,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B,bone morphogenetic protein receptor type 1B
ENSG00000138738	zinc finger protein 469
ENSG00000138741	transient receptor potential cation channel subfamily C member 3
ENSG00000138750	nucleoporin 54
ENSG00000138759	Fraser extracellular matrix complex subunit 1,Renal agenesis, unilateral
ENSG00000138760	cystatin B,Gaucher disease type 1,scavenger receptor class B member 2
ENSG00000138778	Autosomal recessive primary microcephaly,DNA replication helicase/nuclease 2
ENSG00000138796	hydroxyacyl-CoA dehydrogenase
ENSG00000138798	axin 1,epidermal growth factor
ENSG00000138814	actin like 6B,Autosomal dominant non-syndromic intellectual disability,protein phosphatase 3 catalytic subunit alpha
ENSG00000138821	solute carrier family 39 member 8
ENSG00000138823	microsomal triglyceride transfer protein,microsomal triglyceride transfer protein
ENSG00000138829	ATP binding cassette subfamily A member 4,fibrillin 2
ENSG00000138834	zinc finger MIZ-type containing 1
ENSG00000139053	phosphodiesterase 6C
ENSG00000139083	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),ETS variant transcription factor 6,ETS variant transcription factor 6,ETS variant transcription factor 6,eukaryotic translation initiation factor 1A X-linked,fibroblast growth factor receptor 1,platelet derived growth factor receptor beta
ENSG00000139116	collagen type XXV alpha 1 chain,solute carrier family 18 member A3
ENSG00000139131	pseudouridine synthase 1
ENSG00000139132	FYVE, RhoGEF and PH domain containing 4
ENSG00000139174	cystatin B
ENSG00000139190	Presynaptic congenital myasthenic syndromes,vesicle associated membrane protein 1
ENSG00000139193	CD27 molecule
ENSG00000139197	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2,Rhizomelic chondrodysplasia punctata type 5
ENSG00000139219	Achondrogenesis type 2,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,collagen type II alpha 1 chain,Hypochondrogenesis,Stickler syndrome type 1,transient receptor potential cation channel subfamily V member 4
ENSG00000139304	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000139318	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000139323	retinitis pigmentosa GTPase regulator
ENSG00000139324	Periventricular nodular heterotopia
ENSG00000139330	keratocan
ENSG00000139351	sperm associated antigen 17
ENSG00000139352	paired like homeobox 2B
ENSG00000139428	Vitamin B12-responsive methylmalonic acidemia type cblB
ENSG00000139515	ATP binding cassette subfamily C member 8,pancreas associated transcription factor 1a,signal transducer and activator of transcription 3
ENSG00000139531	Isolated sulfite oxidase deficiency
ENSG00000139537	dynein axonemal heavy chain 1
ENSG00000139549	DEAH-box helicase 37,desert hedgehog signaling molecule
ENSG00000139567	activin A receptor like type 1,Heritable pulmonary arterial hypertension
ENSG00000139613	AT-rich interaction domain 2
ENSG00000139618	bone morphogenetic protein receptor type 1A,BRCA1 DNA repair associated,BRCA1 DNA repair associated,BRCA2 DNA repair associated,BRCA2 DNA repair associated,cadherin 1,cadherin 1,partner and localizer of BRCA2,phosphatase and tensin homolog,RAD51 recombinase
ENSG00000139648	lysophosphatidic acid receptor 6
ENSG00000139679	lanosterol synthase,lysophosphatidic acid receptor 6
ENSG00000139687	checkpoint kinase 2,Hereditary retinoblastoma,Non-hereditary retinoblastoma,RB transcriptional corepressor 1,RB transcriptional corepressor 1
ENSG00000139718	Autosomal dominant non-syndromic intellectual disability
ENSG00000139719	VPS33A core subunit of CORVET and HOPS complexes
ENSG00000139734	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000139988	S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000140009	estrogen receptor 2
ENSG00000140057	cilia and flagella associated protein 251
ENSG00000140090	Hypocalcified amelogenesis imperfecta,Hypomaturation amelogenesis imperfecta
ENSG00000140092	aldehyde dehydrogenase 18 family member A1,ATP binding cassette subfamily A member 4,EGF containing fibulin extracellular matrix protein 2,fibulin 5
ENSG00000140093	protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000140105	Autosomal recessive primary microcephaly,zinc finger MIZ-type containing 1
ENSG00000140157	NIPA magnesium transporter 1
ENSG00000140199	solute carrier family 12 member 6
ENSG00000140262	fibroblast growth factor receptor 3,trafficking from ER to golgi regulator
ENSG00000140274	solute carrier family 5 member 5
ENSG00000140279	dual oxidase 2,solute carrier family 5 member 5
ENSG00000140287	SLIT and NTRK like family member 1
ENSG00000140326	codanin 1
ENSG00000140368	proline-serine-threonine phosphatase interacting protein 1,proline-serine-threonine phosphatase interacting protein 1
ENSG00000140374	Multiple acyl-CoA dehydrogenase deficiency, mild type,Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ENSG00000140386	Bardet-Biedl syndrome 1,S-phase cyclin A associated protein in the ER
ENSG00000140400	zinc finger MIZ-type containing 1
ENSG00000140416	filamin C,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000140443	insulin like growth factor 1 receptor
ENSG00000140459	cytochrome P450 family 11 subfamily A member 1,cytochrome P450 family 11 subfamily A member 1
ENSG00000140463	Bardet-Biedl syndrome 1
ENSG00000140464	PML nuclear body scaffold
ENSG00000140470	ADAM metallopeptidase with thrombospondin type 1 motif 17
ENSG00000140471	Autosomal recessive non-syndromic intellectual disability
ENSG00000140521	DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,DNA polymerase gamma, catalytic subunit,prickle planar cell polarity protein 2
ENSG00000140522	peripherin 2,peripherin 2,retinaldehyde binding protein 1,S-phase cyclin A associated protein in the ER
ENSG00000140525	RAD51 recombinase
ENSG00000140538	ETS variant transcription factor 6,ETS variant transcription factor 6,eukaryotic translation initiation factor 1A X-linked
ENSG00000140563	multiple C2 and transmembrane domain containing 2
ENSG00000140598	SBDS ribosome maturation factor
ENSG00000140623	cilia and flagella associated protein 251
ENSG00000140650	phosphomannomutase 2
ENSG00000140675	solute carrier family 5 member 2
ENSG00000140691	GNAS complex locus
ENSG00000140694	dyskerin pseudouridine synthase 1,nucleophosmin 1,surfactant protein A1
ENSG00000140718	FTO alpha-ketoglutarate dependent dioxygenase
ENSG00000140740	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000140829	S-phase cyclin A associated protein in the ER
ENSG00000140854	Lissencephaly syndrome, Norman-Roberts type
ENSG00000140873	ADAM metallopeptidase with thrombospondin type 1 motif 18
ENSG00000140905	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000140937	cadherin 11
ENSG00000140939	nucleolar protein 3
ENSG00000140968	interferon regulatory factor 8
ENSG00000140986	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000140990	transmembrane protein 126B
ENSG00000141012	Mucopolysaccharidosis type 4A
ENSG00000141013	dynein axonemal heavy chain 1
ENSG00000141076	Hereditary North American Indian childhood cirrhosis
ENSG00000141161	Early-onset nuclear cataract,Early-onset posterior subcapsular cataract
ENSG00000141252	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ENSG00000141337	Usher syndrome type 3
ENSG00000141349	glucose-6-phosphatase catalytic subunit 3
ENSG00000141367	actin like 6B,Autosomal dominant non-syndromic intellectual disability,proline rich mitotic checkpoint control factor,tropomyosin 3
ENSG00000141376	zinc finger MIZ-type containing 1
ENSG00000141378	peptidyl-tRNA hydrolase 2
ENSG00000141380	SS18 subunit of BAF chromatin remodeling complex
ENSG00000141384	sperm associated antigen 17
ENSG00000141385	AFG3 like matrix AAA peptidase subunit 2,AFG3 like matrix AAA peptidase subunit 2
ENSG00000141404	G protein subunit alpha L
ENSG00000141431	ASXL transcriptional regulator 3
ENSG00000141448	ATP binding cassette subfamily C member 9,Atrial septal defect, ostium secundum type,Complete atrioventricular septal defect with ventricular hypoplasia,GATA binding protein 6,kinase insert domain receptor,lon peptidase 1, mitochondrial
ENSG00000141449	Renal agenesis, bilateral,Renal agenesis, unilateral
ENSG00000141458	Niemann-Pick disease type C, adult neurologic onset,Niemann-Pick disease type C, juvenile neurologic onset,Niemann-Pick disease type C, late infantile neurologic onset,Niemann-Pick disease type C, severe early infantile neurologic onset,Niemann-Pick disease type C, severe perinatal form
ENSG00000141485	actin like 6B,solute carrier family 13 member 5
ENSG00000141497	sperm associated antigen 17
ENSG00000141499	nucleophosmin 1
ENSG00000141506	senataxin
ENSG00000141510	Alveolar rhabdomyosarcoma,axin 1,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),BRCA1 DNA repair associated,cadherin related 23,checkpoint kinase 2,checkpoint kinase 2,cyclin dependent kinase inhibitor 2A,Embryonal rhabdomyosarcoma,Giant cell glioblastoma,Gliosarcoma,phosphatase and tensin homolog,Pleomorphic rhabdomyosarcoma,purinergic receptor P2X 7,RB transcriptional corepressor 1,tet methylcytosine dioxygenase 2,tumor protein p53,tumor protein p53,tumor protein p53,tumor protein p53
ENSG00000141519	dynein axonemal heavy chain 1
ENSG00000141522	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000141524	transmembrane channel like 6
ENSG00000141527	caspase recruitment domain family member 14
ENSG00000141543	eukaryotic translation initiation factor 4A3
ENSG00000141551	period circadian regulator 3
ENSG00000141556	tubulin folding cofactor D
ENSG00000141579	zinc finger protein 750
ENSG00000141627	dymeclin,dymeclin
ENSG00000141646	activin A receptor like type 1,BRCA1 DNA repair associated,forkhead box E3,Generalized juvenile polyposis/juvenile polyposis coli,SMAD family member 4
ENSG00000141655	Adult-onset myasthenia gravis,TNF receptor superfamily member 11a,TNF receptor superfamily member 11a,TNF receptor superfamily member 11a,TNF receptor superfamily member 11a,TNF receptor superfamily member 11b
ENSG00000141736	ATPase copper transporting alpha
ENSG00000141744	angiotensin II receptor type 1
ENSG00000141756	FKBP prolyl isomerase 10,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4,procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
ENSG00000141759	RNA polymerase I subunit A
ENSG00000141837	actin like 6B,calcium voltage-gated channel subunit alpha1 A,calcium voltage-gated channel subunit alpha1 A,calcium voltage-gated channel subunit alpha1 A,calcium voltage-gated channel subunit alpha1 A,cut like homeobox 2,cut like homeobox 2,sodium voltage-gated channel alpha subunit 1
ENSG00000141867	NUT midline carcinoma family member 1,structural maintenance of chromosomes 1A
ENSG00000142002	surfactant protein A1
ENSG00000142156	collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,Collagen VI-related congenital muscular dystrophy
ENSG00000142168	cyclin F
ENSG00000142173	collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type VI alpha 2 chain,Collagen VI-related congenital muscular dystrophy
ENSG00000142178	Dmx like 2,neurotrophic receptor tyrosine kinase 2,solute carrier family 25 member 22
ENSG00000142186	SCY1 like pseudokinase 1
ENSG00000142192	ABetaA21G amyloidosis,ABeta amyloidosis, Arctic type,ABeta amyloidosis, Dutch type,ABeta amyloidosis, Iowa type,ABeta amyloidosis, Italian type,ABetaL34V amyloidosis,ATP binding cassette subfamily A member 7
ENSG00000142208	phosphatase and tensin homolog,phosphatase and tensin homolog,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000142303	ADAM metallopeptidase with thrombospondin type 1 motif 10
ENSG00000142319	solute carrier family 6 member 3
ENSG00000142405	NLR family pyrin domain containing 12
ENSG00000142513	Hypoplastic amelogenesis imperfecta
ENSG00000142599	arginine-glutamic acid dipeptide repeats,arginine-glutamic acid dipeptide repeats
ENSG00000142606	interleukin 12 receptor subunit beta 1
ENSG00000142609	dynein axonemal heavy chain 1
ENSG00000142611	arginine-glutamic acid dipeptide repeats,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000142619	peptidyl arginine deiminase 3
ENSG00000142627	Early-onset nuclear cataract,Early-onset posterior polar cataract,Early-onset posterior subcapsular cataract,Total early-onset cataract
ENSG00000142655	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000142676	ribosomal protein L18
ENSG00000142687	Limited cutaneous systemic sclerosis,PX domain containing serine/threonine kinase like
ENSG00000142731	DNA replication helicase/nuclease 2,polo like kinase 4
ENSG00000142733	cadherin 1
ENSG00000142748	ficolin 3
ENSG00000142798	arginine-glutamic acid dipeptide repeats,heparan sulfate proteoglycan 2,heparan sulfate proteoglycan 2
ENSG00000142867	MALT1 paracaspase
ENSG00000142875	dynein cytoplasmic 2 light intermediate chain 1
ENSG00000142949	protein tyrosine phosphatase receptor type F
ENSG00000143061	immunoglobulin superfamily member 3
ENSG00000143147	WD repeat domain 11
ENSG00000143156	ankyrin repeat and sterile alpha motif domain containing 3
ENSG00000143178	T-box transcription factor 19
ENSG00000143183	transmembrane and coiled-coil domains 1
ENSG00000143199	adenylate cyclase 10
ENSG00000143217	nectin cell adhesion molecule 4
ENSG00000143224	protoporphyrinogen oxidase
ENSG00000143252	phosphatase and tensin homolog,solute carrier family 25 member 11,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex iron sulfur subunit B
ENSG00000143278	coagulation factor XIII A chain
ENSG00000143294	proline rich mitotic checkpoint control factor
ENSG00000143315	phosphatidylinositol glycan anchor biosynthesis class M
ENSG00000143318	calsequestrin 1,ORAI calcium release-activated calcium modulator 1
ENSG00000143324	junctional adhesion molecule 2
ENSG00000143337	torsin 1A interacting protein 1
ENSG00000143341	ATP binding cassette subfamily A member 4
ENSG00000143363	prune exopolyphosphatase 1
ENSG00000143365	RAR related orphan receptor C
ENSG00000143368	splicing factor 3b subunit 4,splicing factor 3b subunit 4
ENSG00000143369	extracellular matrix protein 1
ENSG00000143373	TNF receptor superfamily member 11a
ENSG00000143374	threonyl-tRNA synthetase 2, mitochondrial
ENSG00000143382	fibrillin 1
ENSG00000143387	cathepsin K
ENSG00000143390	regulatory factor X5
ENSG00000143416	selenium binding protein 1
ENSG00000143442	pogo transposable element derived with ZNF domain
ENSG00000143469	synaptotagmin 14
ENSG00000143473	potassium calcium-activated channel subfamily N member 3,potassium voltage-gated channel subfamily H member 1
ENSG00000143498	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000143520	Peeling skin syndrome type A
ENSG00000143549	mitogen-activated protein kinase kinase kinase 20,myopalladin,tropomyosin 2,tropomyosin 3,tropomyosin 3,tropomyosin 3
ENSG00000143575	HCLS1 associated protein X-1
ENSG00000143603	potassium calcium-activated channel subfamily N member 3
ENSG00000143614	GATA zinc finger domain containing 2B
ENSG00000143622	RAS related
ENSG00000143627	pyruvate kinase L/R
ENSG00000143631	filaggrin,filaggrin
ENSG00000143632	actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,mitogen-activated protein kinase kinase kinase 20,tropomyosin 2,tropomyosin 3
ENSG00000143669	lysosomal trafficking regulator,lysosomal trafficking regulator
ENSG00000143756	actin like 6B
ENSG00000143761	Periventricular nodular heterotopia
ENSG00000143768	polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000143801	ATP binding cassette subfamily A member 7,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000143811	Autosomal recessive primary microcephaly,pyrroline-5-carboxylate reductase 2
ENSG00000143815	lamin B receptor,lamin B receptor,lamin B receptor
ENSG00000143819	epoxide hydrolase 1
ENSG00000143839	Renal tubular dysgenesis of genetic origin,REN-related autosomal dominant tubulointerstitial kidney disease
ENSG00000143858	Presynaptic congenital myasthenic syndromes
ENSG00000143891	galactose mutarotase
ENSG00000143919	prolyl endopeptidase like,solute carrier family 3 member 1,solute carrier family 3 member 1
ENSG00000143921	ATP binding cassette subfamily G member 5,ATP binding cassette subfamily G member 5
ENSG00000143933	calsequestrin 2,triadin
ENSG00000143951	Bardet-Biedl syndrome 1,WD repeat containing planar cell polarity effector
ENSG00000144028	S-phase cyclin A associated protein in the ER
ENSG00000144034	O-sialoglycoprotein endopeptidase
ENSG00000144036	exocyst complex component 6B
ENSG00000144061	Bardet-Biedl syndrome 1,centrosomal protein 290,Juvenile nephronophthisis,nephrocystin 1
ENSG00000144182	lipoyltransferase 1
ENSG00000144191	phosphodiesterase 6C,retinitis pigmentosa GTPase regulator
ENSG00000144218	ALF transcription elongation factor 3
ENSG00000144285	cut like homeobox 2,hyperpolarization activated cyclic nucleotide gated potassium channel 1,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel alpha subunit 2,solute carrier family 2 member 1
ENSG00000144354	DNA methyltransferase 3 beta
ENSG00000144381	heat shock protein family D (Hsp60) member 1,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
ENSG00000144406	sodium leak channel, non-selective
ENSG00000144452	ATP binding cassette subfamily A member 12,ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000144455	sulfatase modifying factor 1
ENSG00000144535	BRCA2 DNA repair associated,DIS3 like 3'-5' exoribonuclease 2
ENSG00000144554	RAD51 recombinase
ENSG00000144591	trafficking protein particle complex subunit 11
ENSG00000144647	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000144659	solute carrier family 25 member 38
ENSG00000144711	Autosomal recessive non-syndromic intellectual disability
ENSG00000144730	Kallmann syndrome
ENSG00000144736	torsin family 1 member A
ENSG00000144741	solute carrier family 25 member 26
ENSG00000144840	BRCA1 DNA repair associated
ENSG00000144891	angiotensin II receptor type 1,Renal tubular dysgenesis of genetic origin
ENSG00000144893	Autosomal dominant non-syndromic intellectual disability
ENSG00000144962	Male infertility due to globozoospermia
ENSG00000145016	rubicon autophagy regulator
ENSG00000145020	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000145103	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000145191	Congenital or early infantile CACH syndrome,Cree leukoencephalopathy,Juvenile or adult CACH syndrome,Late infantile CACH syndrome,Ovarioleukodystrophy
ENSG00000145192	integrin subunit beta 6
ENSG00000145216	factor interacting with PAPOLA and CPSF1,fibroblast growth factor receptor 1,PML nuclear body scaffold
ENSG00000145244	fms related receptor tyrosine kinase 1
ENSG00000145331	protein phosphatase 1 regulatory subunit 15B
ENSG00000145335	glucosylceramidase beta 1,synaptojanin 1,synuclein alpha,synuclein alpha
ENSG00000145348	TBC1 domain containing kinase
ENSG00000145354	wolframin ER transmembrane glycoprotein
ENSG00000145362	triadin
ENSG00000145375	AFG2 AAA ATPase homolog A
ENSG00000145476	cytochrome P450 family 4 subfamily V member 2
ENSG00000145494	transmembrane protein 126B
ENSG00000145495	sterile alpha motif domain containing 12
ENSG00000145623	oncostatin M receptor
ENSG00000145675	Autosomal agammaglobulinemia,phosphatase and tensin homolog,phosphoinositide-3-kinase regulatory subunit 1
ENSG00000145715	RAS p21 protein activator 1,RAS p21 protein activator 1
ENSG00000145725	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000145734	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000145794	multiple EGF like domains 10
ENSG00000145817	immediate early response 3 interacting protein 1
ENSG00000145864	actin like 6B
ENSG00000145868	heat shock protein family B (small) member 1
ENSG00000145888	ATPase family AAA domain containing 1
ENSG00000145901	PX domain containing serine/threonine kinase like
ENSG00000145912	nucleophosmin 1
ENSG00000145979	Isolated megalencephaly
ENSG00000145982	phenylalanyl-tRNA synthetase 2, mitochondrial,phenylalanyl-tRNA synthetase 2, mitochondrial
ENSG00000146021	Pseudohypoaldosteronism type 2D
ENSG00000146038	doublecortin domain containing 2,doublecortin domain containing 2,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000146085	Vitamin B12-unresponsive methylmalonic acidemia type mut-,Vitamin B12-unresponsive methylmalonic acidemia type mut0
ENSG00000146122	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000146247	pleckstrin homology domain interacting protein
ENSG00000146282	arginyl-tRNA synthetase 2, mitochondrial
ENSG00000146453	sperm associated antigen 17
ENSG00000146648	epidermal growth factor receptor,Giant cell glioblastoma,Gliosarcoma
ENSG00000146701	solute carrier family 25 member 11
ENSG00000146733	3-phosphoserine phosphatase deficiency, infantile/juvenile form
ENSG00000146826	Autosomal recessive primary microcephaly
ENSG00000146926	cytochrome P450 family 1 subfamily B member 1
ENSG00000146938	neuroligin 3,RAB39B, member RAS oncogene family
ENSG00000147003	collectrin, amino acid transport regulator
ENSG00000147044	bromodomain and WD repeat domain containing 3,calcium/calmodulin dependent serine protein kinase,Dmx like 2
ENSG00000147050	lysine methyltransferase 2D
ENSG00000147065	moesin
ENSG00000147081	cilia and flagella associated protein 251
ENSG00000147099	histone deacetylase 8,structural maintenance of chromosomes 1A
ENSG00000147100	solute carrier family 16 member 2
ENSG00000147123	holocytochrome c synthase,transmembrane protein 126B
ENSG00000147124	X-linked non-syndromic intellectual disability
ENSG00000147133	TATA-box binding protein associated factor 1,TATA-box binding protein associated factor 1
ENSG00000147140	non-POU domain containing octamer binding,proline rich mitotic checkpoint control factor
ENSG00000147145	eukaryotic translation initiation factor 1A X-linked
ENSG00000147155	EBP cholestenol delta-isomerase,EBP cholestenol delta-isomerase
ENSG00000147168	adenosine deaminase,interleukin 2 receptor subunit gamma
ENSG00000147180	X-linked non-syndromic intellectual disability
ENSG00000147202	inhibin subunit alpha
ENSG00000147224	Mild phosphoribosylpyrophosphate synthetase superactivity,phosphoribosyl pyrophosphate synthetase 1,phosphoribosyl pyrophosphate synthetase 1,phosphoribosyl pyrophosphate synthetase 1,Rare X-linked non-syndromic sensorineural deafness type DFN,Severe phosphoribosylpyrophosphate synthetase superactivity
ENSG00000147255	immunoglobulin superfamily member 1
ENSG00000147257	BRCA2 DNA repair associated,glypican 3
ENSG00000147316	Autosomal recessive primary microcephaly
ENSG00000147383	NAD(P) dependent steroid dehydrogenase-like,NAD(P) dependent steroid dehydrogenase-like
ENSG00000147403	ribosomal protein L10,ribosomal protein L10
ENSG00000147408	chondroitin sulfate N-acetylgalactosaminyltransferase 1
ENSG00000147416	ATPase H+ transporting V1 subunit B2,ATPase H+ transporting V1 subunit B2,potassium calcium-activated channel subfamily N member 3
ENSG00000147437	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000147465	Classic congenital lipoid adrenal hyperplasia due to STAR deficency,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,steroidogenic acute regulatory protein
ENSG00000147471	aldehyde dehydrogenase 7 family member A1
ENSG00000147475	alsin Rho guanine nucleotide exchange factor ALS2,ER lipid raft associated 2,ER lipid raft associated 2
ENSG00000147526	Giant cell glioblastoma,Gliosarcoma
ENSG00000147571	cholinergic receptor nicotinic alpha 4 subunit
ENSG00000147588	peripheral myelin protein 2
ENSG00000147647	dihydropyrimidinase
ENSG00000147650	notch 2 N-terminal like C
ENSG00000147655	R-spondin 2
ENSG00000147684	transmembrane protein 126B
ENSG00000147804	solute carrier family 39 member 4
ENSG00000147852	very low density lipoprotein receptor
ENSG00000147883	cyclin dependent kinase 4,cyclin dependent kinase inhibitor 1B
ENSG00000147889	ABL proto-oncogene 1, non-receptor tyrosine kinase,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),BRCA1 DNA repair associated,cyclin dependent kinase 4,cyclin dependent kinase inhibitor 2A,cyclin dependent kinase inhibitor 2A,cyclin dependent kinase inhibitor 2A,tumor protein p53
ENSG00000147894	C9orf72-SMCR8 complex subunit,cyclin F,presenilin 1,transmembrane protein 106B,transmembrane protein 106B,valosin containing protein
ENSG00000147955	alsin Rho guanine nucleotide exchange factor ALS2,sigma non-opioid intracellular receptor 1
ENSG00000148019	Usher syndrome type 3
ENSG00000148053	actin like 6B,neurotrophic receptor tyrosine kinase 2,Pilomyxoid astrocytoma
ENSG00000148090	AU RNA binding methylglutaconyl-CoA hydratase
ENSG00000148143	zinc finger protein 462
ENSG00000148180	gelsolin
ENSG00000148204	crumbs cell polarity complex component 2,membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000148218	aminolevulinate dehydratase
ENSG00000148290	SURF1 cytochrome c oxidase assembly factor
ENSG00000148337	CDKN1A interacting zinc finger protein 1
ENSG00000148356	leucine rich repeat and sterile alpha motif containing 1
ENSG00000148384	Abelson helper integration site 1,centrosomal protein 120,inositol polyphosphate-5-phosphatase E,transmembrane protein 67
ENSG00000148400	NK2 homeobox 5,notch receptor 1
ENSG00000148408	actin like 6B
ENSG00000148459	decaprenyl diphosphate synthase subunit 1
ENSG00000148516	solute carrier family 4 member 11,visual system homeobox 1
ENSG00000148600	retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000148604	S-phase cyclin A associated protein in the ER
ENSG00000148606	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Odontoleukodystrophy,RNA polymerase III subunit A,Tremor-ataxia-central hypomyelination syndrome
ENSG00000148655	leucine rich melanocyte differentiation associated
ENSG00000148672	glutamate dehydrogenase 1
ENSG00000148677	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000148700	KN motif and ankyrin repeat domains 1
ENSG00000148702	multiple inositol-polyphosphate phosphatase 1
ENSG00000148737	zinc finger MIZ-type containing 1
ENSG00000148795	cytochrome b5 type A,cytochrome P450 family 17 subfamily A member 1
ENSG00000148826	NK6 homeobox 2
ENSG00000148842	cyclin and CBS domain divalent metal cation transport mediator 2
ENSG00000148985	phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000149131	Hereditary angioedema type 1,Hereditary angioedema type 2
ENSG00000149196	heat shock protein nuclear import factor hikeshi
ENSG00000149256	dopamine receptor D3
ENSG00000149257	Osteogenesis imperfecta type 3
ENSG00000149260	calpain 5
ENSG00000149292	dynein axonemal heavy chain 1
ENSG00000149295	sarcoglycan epsilon
ENSG00000149311	ATM serine/threonine kinase,ATM serine/threonine kinase,bone morphogenetic protein receptor type 1A,cadherin 1,cyclin D1,purinergic receptor P2X 7
ENSG00000149418	ST14 transmembrane serine protease matriptase
ENSG00000149476	triokinase and FMN cyclase
ENSG00000149483	centrosomal protein 290
ENSG00000149489	S-phase cyclin A associated protein in the ER
ENSG00000149506	zona pellucida glycoprotein 2
ENSG00000149541	beta-1,3-glucuronyltransferase 3
ENSG00000149571	Autosomal dominant non-syndromic intellectual disability
ENSG00000149573	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000149575	ATP binding cassette subfamily C member 9,hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000149596	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000149781	Leukocyte adhesion deficiency type III
ENSG00000149782	phospholipase C beta 3
ENSG00000149922	T-box transcription factor 6
ENSG00000149925	aldolase, fructose-bisphosphate A
ENSG00000149926	retinitis pigmentosa GTPase regulator
ENSG00000149948	Dedifferentiated liposarcoma,LEM domain containing 3,Pleomorphic salivary gland adenoma,Silver-Russell syndrome due to a point mutation,Well-differentiated liposarcoma
ENSG00000149970	actin like 6B,X-linked non-syndromic intellectual disability
ENSG00000150275	Disease-causing germline mutation(s) in,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000150433	centrosomal protein 120
ENSG00000150540	Autosomal recessive non-syndromic intellectual disability
ENSG00000150630	vascular endothelial growth factor C
ENSG00000150753	chaperonin containing TCP1 subunit 5
ENSG00000150768	Pyruvate dehydrogenase E2 deficiency
ENSG00000150787	6-pyruvoyl-tetrahydropterin synthase deficiency
ENSG00000150867	B-lymphoblastic leukemia/lymphoma with hyperdiploidy
ENSG00000150893	Complete cryptophthalmia,Fraser extracellular matrix complex subunit 1,Renal agenesis, unilateral
ENSG00000150907	Alveolar rhabdomyosarcoma
ENSG00000150938	cysteine rich transmembrane BMP regulator 1
ENSG00000150961	Osteogenesis imperfecta type 1,prolyl 4-hydroxylase subunit beta
ENSG00000150990	DEAH-box helicase 37,DEAH-box helicase 37,DEAH-box helicase 37
ENSG00000150995	inositol 1,4,5-trisphosphate receptor type 1,inositol 1,4,5-trisphosphate receptor type 1,inositol 1,4,5-trisphosphate receptor type 1
ENSG00000151062	retinitis pigmentosa GTPase regulator,rhodopsin
ENSG00000151067	Atypical Timothy syndrome,hyperpolarization activated cyclic nucleotide gated potassium channel 4,Timothy syndrome type 1,Timothy syndrome type 2,triadin,zinc finger MIZ-type containing 1
ENSG00000151090	thyroid hormone receptor beta
ENSG00000151092	N-glycanase 1
ENSG00000151148	ubiquitin protein ligase E3B
ENSG00000151150	ankyrin 3
ENSG00000151151	inositol polyphosphate multikinase
ENSG00000151224	methionine adenosyltransferase 1A
ENSG00000151247	RAB39B, member RAS oncogene family
ENSG00000151348	ALX homeobox 4,exostosin glycosyltransferase 1,exostosin glycosyltransferase 2
ENSG00000151413	transmembrane protein 126B
ENSG00000151445	VPS33B late endosome and lysosome associated
ENSG00000151466	Bardet-Biedl syndrome 1
ENSG00000151474	FERM domain containing 4A
ENSG00000151490	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000151491	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000151498	acyl-CoA dehydrogenase family member 8
ENSG00000151503	Autosomal recessive primary microcephaly
ENSG00000151552	Dihydropteridine reductase deficiency
ENSG00000151577	dopamine receptor D3
ENSG00000151611	Vitamin B12-responsive methylmalonic acidemia type cblA
ENSG00000151617	endothelin receptor type A,serpin family A member 1
ENSG00000151623	Renal pseudohypoaldosteronism type 1
ENSG00000151632	aldo-keto reductase family 1 member C2
ENSG00000151694	epidermal growth factor receptor
ENSG00000151702	ETS transcription factor ERG,ETS transcription factor ERG,Fli-1 proto-oncogene, ETS transcription factor,Fli-1 proto-oncogene, ETS transcription factor,Fli-1 proto-oncogene, ETS transcription factor,Fli-1 proto-oncogene, ETS transcription factor
ENSG00000151704	Bartter syndrome type 2
ENSG00000151729	DNA polymerase gamma, catalytic subunit,triokinase and FMN cyclase
ENSG00000151779	NBAS subunit of NRZ tethering complex,NBAS subunit of NRZ tethering complex
ENSG00000151790	tryptophan 2,3-dioxygenase
ENSG00000151806	neurotrophic receptor tyrosine kinase 2
ENSG00000151834	actin like 6B
ENSG00000151835	sacsin molecular chaperone
ENSG00000151849	Autosomal recessive primary microcephaly,DNA replication helicase/nuclease 2
ENSG00000151892	Renal agenesis, bilateral
ENSG00000151914	dystonin,dystonin
ENSG00000151929	BAG cochaperone 3,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000152056	interleukin 36 receptor antagonist,interleukin 36 receptor antagonist,interleukin 36 receptor antagonist
ENSG00000152104	protein tyrosine phosphatase non-receptor type 14
ENSG00000152137	heat shock protein family B (small) member 1,heat shock protein family B (small) member 8,heat shock protein family B (small) member 8
ENSG00000152192	calmodulin binding transcription activator 1
ENSG00000152207	cysteinyl leukotriene receptor 2
ENSG00000152208	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
ENSG00000152213	purinergic receptor P2X 7
ENSG00000152217	SET binding protein 1,SET binding protein 1
ENSG00000152223	ectopic P-granules 5 autophagy tethering factor
ENSG00000152234	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000152266	Familial isolated hypoparathyroidism due to impaired PTH secretion
ENSG00000152422	NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase,X-ray repair cross complementing 4
ENSG00000152457	adenosine deaminase,DNA cross-link repair 1C
ENSG00000152492	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000152518	Female infertility due to an implantation defect of genetic origin
ENSG00000152556	phosphofructokinase, muscle
ENSG00000152578	zinc finger MIZ-type containing 1
ENSG00000152582	cilia and flagella associated protein 251,dynein axonemal heavy chain 1
ENSG00000152591	Dentin dysplasia type I,Dentin dysplasia type II,Dentinogenesis imperfecta type 2,Dentinogenesis imperfecta type 3
ENSG00000152592	dentin matrix acidic phosphoprotein 1
ENSG00000152620	NAD kinase 2, mitochondrial
ENSG00000152642	hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000152661	ANKH inorganic pyrophosphate transport regulator,gap junction protein alpha 1,gap junction protein alpha 1,gap junction protein alpha 1,gap junction protein alpha 1,gap junction protein alpha 1,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000152669	dynein axonemal heavy chain 1
ENSG00000152700	secretion associated Ras related GTPase 1B
ENSG00000152779	solute carrier family 16 member 12
ENSG00000152784	PR/SET domain 8
ENSG00000152795	heterogeneous nuclear ribonucleoprotein D like
ENSG00000152822	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,glutamate metabotropic receptor 1,glutamate metabotropic receptor 1
ENSG00000152904	Perrault syndrome type 1,Perrault syndrome type 2
ENSG00000152939	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000152952	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
ENSG00000152977	fibroblast growth factor receptor 3,Isolated Dandy-Walker malformation with hydrocephalus,Isolated Dandy-Walker malformation without hydrocephalus
ENSG00000153015	CWC27 spliceosome associated cyclophilin
ENSG00000153037	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000153064	PX domain containing serine/threonine kinase like
ENSG00000153107	Rothmund-Thomson syndrome type 1
ENSG00000153113	calpastatin
ENSG00000153147	ETS transcription factor ERG
ENSG00000153162	homeostatic iron regulator
ENSG00000153187	heterogeneous nuclear ribonucleoprotein U
ENSG00000153201	carnitine palmitoyltransferase 2,RAN binding protein 2,tropomyosin 3
ENSG00000153208	S-phase cyclin A associated protein in the ER
ENSG00000153234	GTP cyclohydrolase 1
ENSG00000153253	actin like 6B
ENSG00000153283	CD96 molecule
ENSG00000153487	Squamous cell carcinoma of salivary glands,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b
ENSG00000153563	CD8 subunit alpha
ENSG00000153574	ribose 5-phosphate isomerase A
ENSG00000153814	PX domain containing serine/threonine kinase like,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
ENSG00000153827	zinc finger MIZ-type containing 1
ENSG00000153902	contactin associated protein 1
ENSG00000153922	chromodomain helicase DNA binding protein 1
ENSG00000153933	diacylglycerol kinase epsilon,Immunoglobulin-mediated membranoproliferative glomerulonephritis
ENSG00000153936	zinc finger MIZ-type containing 1
ENSG00000153956	actin like 6B,hyperpolarization activated cyclic nucleotide gated potassium channel 4,solute carrier family 4 member 3
ENSG00000153989	actin like 6B
ENSG00000153993	ATPase copper transporting alpha
ENSG00000154016	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000154099	dynein axonemal heavy chain 1
ENSG00000154118	junctophilin 3
ENSG00000154122	ANKH inorganic pyrophosphate transport regulator,TNF receptor superfamily member 11b
ENSG00000154124	OTU deubiquitinase with linear linkage specificity
ENSG00000154134	DCC netrin 1 receptor
ENSG00000154153	sodium voltage-gated channel alpha subunit 9
ENSG00000154188	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
ENSG00000154227	ADAM metallopeptidase with thrombospondin type 1 motif 17,ATP binding cassette subfamily A member 12
ENSG00000154237	leucine rich repeat kinase 1
ENSG00000154265	ATP binding cassette subfamily A member 5
ENSG00000154277	synaptojanin 1,ubiquitin C-terminal hydrolase L1
ENSG00000154309	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000154310	Autosomal recessive non-syndromic intellectual disability
ENSG00000154342	Wnt family member 3A
ENSG00000154358	mitochondrially encoded cytochrome c oxidase I
ENSG00000154473	thyroid hormone receptor interactor 13
ENSG00000154485	ankyrin repeat and sterile alpha motif domain containing 3,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000154646	transmembrane serine protease 15
ENSG00000154678	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000154721	junctional adhesion molecule 2
ENSG00000154743	tRNA splicing endonuclease subunit 15
ENSG00000154764	Wnt family member 7A,Wnt family member 7A
ENSG00000154767	XPA, DNA damage recognition and repair factor
ENSG00000154781	coiled-coil domain containing 174
ENSG00000154803	8-oxoguanine DNA glycosylase,folliculin,folliculin
ENSG00000154856	lanosterol synthase
ENSG00000154864	piezo type mechanosensitive ion channel component 2,piezo type mechanosensitive ion channel component 2,piezo type mechanosensitive ion channel component 2
ENSG00000154997	Giant cell glioblastoma,Gliosarcoma
ENSG00000155016	cytochrome P450 family 2 subfamily U member 1
ENSG00000155085	Postsynaptic congenital myasthenic syndromes
ENSG00000155100	OTU deubiquitinase 6B
ENSG00000155111	actin like 6B
ENSG00000155380	solute carrier family 16 member 1,solute carrier family 16 member 1,solute carrier family 16 member 1
ENSG00000155393	ribosomal protein L18
ENSG00000155465	solute carrier family 7 member 7
ENSG00000155511	Autosomal dominant non-syndromic intellectual disability,Autosomal recessive non-syndromic intellectual disability
ENSG00000155561	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000155657	ATP binding cassette subfamily C member 9,Classic multiminicore myopathy,filamin C,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,TATA-box binding protein associated factor, RNA polymerase I subunit A,titin,titin,titin,titin,titin,titin
ENSG00000155719	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000155754	Male infertility due to globozoospermia
ENSG00000155755	centrosomal protein 120,centrosomal protein 290,nephrocystin 1,thioredoxin domain containing 15
ENSG00000155761	cilia and flagella associated protein 251,sperm associated antigen 17
ENSG00000155816	Autosomal recessive non-syndromic intellectual disability
ENSG00000155850	Achondrogenesis type 1B,solute carrier family 26 member 2,solute carrier family 26 member 2,solute carrier family 26 member 2
ENSG00000155858	LSM11, U7 small nuclear RNA associated
ENSG00000155903	RAS related
ENSG00000155906	Perrault syndrome type 1,Perrault syndrome type 2,required for meiotic nuclear division 1 homolog
ENSG00000155961	RAB39B, member RAS oncogene family,RAB39B, member RAS oncogene family,X-linked non-syndromic intellectual disability
ENSG00000155962	chloride intracellular channel 2
ENSG00000155966	ALF transcription elongation factor 2
ENSG00000155974	Fraser extracellular matrix complex subunit 1
ENSG00000155975	VPS37A subunit of ESCRT-I
ENSG00000155980	kinesin family member 5A,kinesin family member 5A
ENSG00000156042	cilia and flagella associated protein 251
ENSG00000156049	G protein subunit alpha 14,G protein subunit alpha 14
ENSG00000156052	cysteinyl leukotriene receptor 2,G protein subunit alpha q,G protein subunit alpha q,Phakomatosis cesioflammea
ENSG00000156110	adenosine kinase
ENSG00000156113	potassium calcium-activated channel subfamily M alpha 1,potassium calcium-activated channel subfamily N member 3
ENSG00000156140	collagen and calcium binding EGF domains 1
ENSG00000156150	ALX homeobox 3
ENSG00000156170	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
ENSG00000156171	retinitis pigmentosa GTPase regulator
ENSG00000156172	Bardet-Biedl syndrome 1,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000156298	X-linked non-syndromic intellectual disability
ENSG00000156299	zinc finger MIZ-type containing 1
ENSG00000156304	zinc finger MIZ-type containing 1
ENSG00000156313	dynein axonemal heavy chain 1,phosphodiesterase 6C,retinitis pigmentosa GTPase regulator,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000156414	sperm associated antigen 17
ENSG00000156466	growth differentiation factor 3,sonic hedgehog signaling molecule,ubiquitin specific peptidase 45
ENSG00000156467	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000156471	phosphatidylserine synthase 1
ENSG00000156475	protein phosphatase 2 regulatory subunit Bbeta
ENSG00000156509	sperm associated antigen 17
ENSG00000156515	hexokinase 1,hexokinase 1
ENSG00000156531	PHD finger protein 6
ENSG00000156535	glycoprotein Ib platelet subunit alpha
ENSG00000156574	Alobar holoprosencephaly,ankyrin repeat and sterile alpha motif domain containing 3,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,polycystin 1 like 1, transient receptor potential channel interacting,polycystin 1 like 1, transient receptor potential channel interacting,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000156650	lysine acetyltransferase 6B,lysine acetyltransferase 6B
ENSG00000156709	apoptosis inducing factor mitochondria associated 1,apoptosis inducing factor mitochondria associated 1,apoptosis inducing factor mitochondria associated 1,apoptosis inducing factor mitochondria associated 1
ENSG00000156738	CD19 molecule
ENSG00000156831	NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
ENSG00000156873	phosphorylase kinase regulatory subunit alpha 2
ENSG00000156876	Autosomal recessive primary microcephaly
ENSG00000156885	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000156925	Isolated congenitally uncorrected transposition of the great arteries,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000156970	thyroid hormone receptor interactor 13
ENSG00000156973	centrosomal protein 120,family with sequence similarity 149 member B1
ENSG00000156976	zinc finger MIZ-type containing 1
ENSG00000157087	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000157103	Autosomal dominant non-syndromic intellectual disability,solute carrier family 2 member 1
ENSG00000157119	actin alpha 1, skeletal muscle
ENSG00000157131	complement C5
ENSG00000157184	carnitine palmitoyltransferase 2,Carnitine palmitoyl transferase II deficiency, myopathic form,Carnitine palmitoyl transferase II deficiency, neonatal form,Carnitine palmitoyl transferase II deficiency, severe infantile form
ENSG00000157227	matrix metallopeptidase 2
ENSG00000157259	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000157343	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000157388	calcium voltage-gated channel subunit alpha1 D,calcium voltage-gated channel subunit alpha1 D,potassium inwardly rectifying channel subfamily J member 5
ENSG00000157399	arylsulfatase L
ENSG00000157404	Acute mast cell leukemia,Bullous diffuse cutaneous mastocytosis,Chronic mast cell leukemia,fms related receptor tyrosine kinase 3,fms related receptor tyrosine kinase 3,KIT proto-oncogene, receptor tyrosine kinase,KIT proto-oncogene, receptor tyrosine kinase,KIT proto-oncogene, receptor tyrosine kinase,KIT proto-oncogene, receptor tyrosine kinase,KIT proto-oncogene, receptor tyrosine kinase,Nodular urticaria pigmentosa,Plaque-form urticaria pigmentosa,Pseudoxanthomatous diffuse cutaneous mastocytosis,RUNX family transcription factor 1,snail family transcriptional repressor 2,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex flavoprotein subunit A,Telangiectasia macularis eruptiva perstans,Typical urticaria pigmentosa
ENSG00000157423	dynein axonemal heavy chain 1
ENSG00000157483	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000157500	ATP binding cassette subfamily C member 8
ENSG00000157540	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Intellectual disability syndrome due to a DYRK1A point mutation
ENSG00000157542	potassium inwardly rectifying channel subfamily J member 6
ENSG00000157554	ETS transcription factor ERG,ETS transcription factor ERG
ENSG00000157613	FUS RNA binding protein,Osteogenesis imperfecta type 3
ENSG00000157764	B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,cadherin related 23,eukaryotic translation initiation factor 1A X-linked,mitogen-activated protein kinase kinase 1,Pilomyxoid astrocytoma,Pilomyxoid astrocytoma,protein tyrosine phosphatase non-receptor type 11
ENSG00000157765	solute carrier family 34 member 2
ENSG00000157766	aggrecan,aggrecan,aggrecan,aggrecan
ENSG00000157796	centrosomal protein 290,intraflagellar transport 122,Juvenile nephronophthisis,KIAA0753
ENSG00000157851	VPS35 endosomal protein sorting factor like,zinc finger MIZ-type containing 1
ENSG00000157856	cilia and flagella associated protein 251,dynein axonemal heavy chain 1
ENSG00000157869	retinitis pigmentosa GTPase regulator
ENSG00000157881	Early-onset posterior polar cataract
ENSG00000157911	peroxisomal biogenesis factor 10,peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000157933	arginine-glutamic acid dipeptide repeats,SKI proto-oncogene
ENSG00000157978	ATP binding cassette subfamily G member 5
ENSG00000158023	cilia and flagella associated protein 251
ENSG00000158055	grainyhead like transcription factor 3,grainyhead like transcription factor 3,grainyhead like transcription factor 3,interferon regulatory factor 6,ubiquitin B
ENSG00000158104	4-hydroxyphenylpyruvate dioxygenase,4-hydroxyphenylpyruvate dioxygenase
ENSG00000158125	Xanthinuria type I
ENSG00000158158	cyclin and CBS domain divalent metal cation transport mediator 4
ENSG00000158163	DAZ interacting zinc finger protein 1 like
ENSG00000158169	RAD51 recombinase
ENSG00000158186	RAS related
ENSG00000158290	cullin 4B
ENSG00000158301	G protein-coupled receptor associated sorting protein 2
ENSG00000158321	activator of transcription and developmental regulator AUTS2,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),RAB39B, member RAS oncogene family
ENSG00000158352	shroom family member 4
ENSG00000158428	sperm associated antigen 17
ENSG00000158445	actin like 6B
ENSG00000158517	cytochrome b-245 beta chain,syntaxin 1A
ENSG00000158526	ribosomal protein L18
ENSG00000158578	5'-aminolevulinate synthase 2,5'-aminolevulinate synthase 2
ENSG00000158615	protein phosphatase 1 regulatory subunit 15B
ENSG00000158683	ankyrin repeat and sterile alpha motif domain containing 3,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000158813	fibroblast growth factor receptor 1,small ubiquitin like modifier 1,X-linked hypohidrotic ectodermal dysplasia
ENSG00000158815	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000158828	synaptojanin 1
ENSG00000158864	NADH:ubiquinone oxidoreductase core subunit S2,transmembrane protein 126B
ENSG00000158874	AApoAII amyloidosis
ENSG00000158887	keratin 1,myelin protein zero,myelin protein zero,myelin protein zero,myelin protein zero,myelin protein zero,peripheral myelin protein 22,peripheral myelin protein 22
ENSG00000158955	Renal agenesis, bilateral
ENSG00000159023	spectrin alpha, erythrocytic 1
ENSG00000159063	ALG8 alpha-1,3-glucosyltransferase
ENSG00000159079	dynein axonemal heavy chain 1
ENSG00000159082	actin like 6B,podocalyxin like,synaptojanin 1
ENSG00000159110	interferon alpha and beta receptor subunit 2
ENSG00000159128	interferon gamma receptor 2,interferon gamma receptor 2,interferon gamma receptor 2
ENSG00000159140	SON DNA and RNA binding protein
ENSG00000159147	Microcephaly-micromelia syndrome,Microcephaly-short stature-limb abnormalities syndrome
ENSG00000159184	cadherin 1
ENSG00000159189	complement C2
ENSG00000159197	ATP binding cassette subfamily C member 9,triadin
ENSG00000159216	BCR activator of RhoGEF and GTPase,ETS variant transcription factor 6,RUNX family transcription factor 1,tet methylcytosine dioxygenase 2
ENSG00000159251	Atrial septal defect, ostium secundum type,filamin C,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000159261	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000159267	holocarboxylase synthetase
ENSG00000159363	ATPase cation transporting 13A2,ATPase cation transporting 13A2,ATPase cation transporting 13A2
ENSG00000159403	complement C1q A chain,complement C1s,complement C2
ENSG00000159423	aldehyde dehydrogenase 4 family member A1
ENSG00000159459	ubiquitin protein ligase E3 component n-recognin 1
ENSG00000159579	ring finger and SPRY domain containing 1
ENSG00000159640	angiotensin I converting enzyme,Renal tubular dysgenesis of genetic origin
ENSG00000159650	urocanate hydratase 1
ENSG00000159692	phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000159753	capping protein regulator and myosin 1 linker 2
ENSG00000159899	natriuretic peptide receptor 2,natriuretic peptide receptor 2
ENSG00000159921	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,protein kinase cAMP-activated catalytic subunit gamma
ENSG00000159958	CD19 molecule
ENSG00000160014	calsequestrin 2,triadin
ENSG00000160111	C3 and PZP like alpha-2-macroglobulin domain containing 8
ENSG00000160131	vacuolar ATPase assembly factor VMA21
ENSG00000160183	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000160188	dynein axonemal heavy chain 1
ENSG00000160193	O-sialoglycoprotein endopeptidase
ENSG00000160200	cystathionine beta-synthase
ENSG00000160202	crystallin alpha A,Early-onset anterior polar cataract,Early-onset lamellar cataract,Early-onset nuclear cataract,Total early-onset cataract
ENSG00000160211	glucose-6-phosphate dehydrogenase,glucose-6-phosphate dehydrogenase
ENSG00000160213	Autosomal recessive hypohidrotic ectodermal dysplasia,cystatin B
ENSG00000160218	Autosomal recessive primary microcephaly
ENSG00000160224	autoimmune regulator,Familial isolated hypoparathyroidism due to impaired PTH secretion
ENSG00000160226	cyclin F,retinitis pigmentosa GTPase regulator
ENSG00000160255	Leukocyte adhesion deficiency type I
ENSG00000160282	formimidoyltransferase cyclodeaminase
ENSG00000160285	integrin subunit beta 6,lanosterol synthase,lanosterol synthase,Total early-onset cataract
ENSG00000160299	DNA replication helicase/nuclease 2,pericentrin
ENSG00000160323	Congenital thrombotic thrombocytopenic purpura
ENSG00000160551	Autosomal dominant non-syndromic intellectual disability
ENSG00000160563	zinc finger MIZ-type containing 1
ENSG00000160602	Infantile nephronophthisis,nephrocystin 3
ENSG00000160654	CD3 gamma subunit of T-cell receptor complex
ENSG00000160688	Multiple acyl-CoA dehydrogenase deficiency, mild type,Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ENSG00000160695	VPS11 core subunit of CORVET and HOPS complexes
ENSG00000160710	adenosine deaminase RNA specific,LSM11, U7 small nuclear RNA associated,nucleoporin 54
ENSG00000160712	zinc finger protein 341
ENSG00000160716	cholinergic receptor nicotinic alpha 4 subunit
ENSG00000160746	anoctamin 10
ENSG00000160752	mevalonate kinase
ENSG00000160789	Autosomal dominant Emery-Dreifuss muscular dystrophy,Autosomal recessive Emery-Dreifuss muscular dystrophy,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,lamin A/C,Mandibuloacral dysplasia with type A lipodystrophy,pleckstrin homology and RUN domain containing M2,TATA-box binding protein associated factor, RNA polymerase I subunit A,zinc metallopeptidase STE24,zinc metallopeptidase STE24
ENSG00000160796	neurobeachin like 2
ENSG00000160801	parathyroid hormone 1 receptor,parathyroid hormone 1 receptor,parathyroid hormone 1 receptor,parathyroid hormone 1 receptor,parathyroid hormone 1 receptor
ENSG00000160808	filamin C
ENSG00000160877	nucleus accumbens associated 1
ENSG00000160882	cytochrome P450 family 11 subfamily B member 1,cytochrome P450 family 11 subfamily B member 1
ENSG00000160949	tonsoku like, DNA repair protein
ENSG00000160957	RecQ like helicase 4,RecQ like helicase 4,Rothmund-Thomson syndrome type 2
ENSG00000160973	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000161011	cyclin F,TIA1 cytotoxic granule associated RNA binding protein,TNF receptor superfamily member 11a,transmembrane protein 106B,valosin containing protein
ENSG00000161016	ribosomal protein L18
ENSG00000161202	Autosomal dominant Robinow syndrome
ENSG00000161203	solute carrier family 2 member 1
ENSG00000161217	phosphate cytidylyltransferase 1A, choline,ubiquitin specific peptidase 45
ENSG00000161270	membrane associated guanylate kinase, WW and PDZ domain containing 2,NPHS1 adhesion molecule, nephrin
ENSG00000161328	dynein axonemal heavy chain 1
ENSG00000161395	phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000161405	purinergic receptor P2X 7
ENSG00000161513	ferredoxin reductase,ferredoxin reductase
ENSG00000161533	acyl-CoA oxidase 1,acyl-CoA oxidase 1
ENSG00000161547	KIT proto-oncogene, receptor tyrosine kinase,platelet derived growth factor receptor beta,tet methylcytosine dioxygenase 2
ENSG00000161594	sperm associated antigen 17
ENSG00000161610	hypocretin neuropeptide precursor,hypocretin neuropeptide precursor
ENSG00000161653	N-acetylglutamate synthase
ENSG00000161671	zinc finger MIZ-type containing 1
ENSG00000161798	aquaporin 5
ENSG00000161800	kinesin family member 23
ENSG00000161904	Early-onset posterior subcapsular cataract,Total early-onset cataract
ENSG00000161970	ribosomal protein L18
ENSG00000162004	coiled-coil domain containing 78
ENSG00000162039	sperm associated antigen 17
ENSG00000162040	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
ENSG00000162063	cyclin F
ENSG00000162065	ATPase H+ transporting V1 subunit B2,complexin 1,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,sodium voltage-gated channel alpha subunit 2,TBC1 domain family member 24,TBC1 domain family member 24,TBC1 domain family member 24
ENSG00000162105	RAB39B, member RAS oncogene family
ENSG00000162129	ClpB family mitochondrial disaggregase,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000162337	catenin beta 1,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,LDL receptor related protein 5,protein kinase C substrate 80K-H
ENSG00000162367	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000162396	actin like 6B
ENSG00000162399	Bartter syndrome type 4,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000162426	Autosomal recessive non-syndromic intellectual disability
ENSG00000162430	actin alpha 1, skeletal muscle,Classic multiminicore myopathy,mitogen-activated protein kinase kinase kinase 20,selenoprotein N
ENSG00000162434	Janus kinase 1
ENSG00000162438	calcium sensing receptor,chymotrypsin C,serine peptidase inhibitor Kazal type 1
ENSG00000162493	arginine-glutamic acid dipeptide repeats
ENSG00000162551	Adult hypophosphatasia,Childhood-onset hypophosphatasia,Infantile hypophosphatasia,Odontohypophosphatasia,Perinatal lethal hypophosphatasia,Prenatal benign hypophosphatasia
ENSG00000162552	Mayer-Rokitansky-Küster-Hauser syndrome type 2,Wnt family member 4,Wnt family member 4
ENSG00000162594	interleukin 10,interleukin 23 receptor,interleukin 6
ENSG00000162599	nuclear factor I A
ENSG00000162601	Myb like, SWIRM and MPN domains 1
ENSG00000162614	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000162631	methyl-CpG binding protein 2,zinc finger MIZ-type containing 1
ENSG00000162669	inhibin subunit alpha
ENSG00000162676	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000162688	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ENSG00000162711	NLR family pyrin domain containing 3,NLR family pyrin domain containing 3,NLR family pyrin domain containing 3,NLR family pyrin domain containing 3
ENSG00000162733	discoidin domain receptor tyrosine kinase 2
ENSG00000162735	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000162736	presenilin 1
ENSG00000162738	Isolated anencephaly,Isolated exencephaly
ENSG00000162747	Fc fragment of IgG receptor IIIb,PX domain containing serine/threonine kinase like
ENSG00000162769	FLVCR heme transporter 1
ENSG00000162775	RNA binding motif protein 15
ENSG00000162882	kynureninase
ENSG00000162885	Autosomal recessive non-syndromic intellectual disability,CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000162923	WD repeat domain 26
ENSG00000162928	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000162946	DISC1 scaffold protein
ENSG00000162989	ATP binding cassette subfamily C member 9
ENSG00000162992	ATP binding cassette subfamily C member 8
ENSG00000163017	actin gamma 2, smooth muscle,leiomodin 1,Myopathic intestinal pseudoobstruction
ENSG00000163050	coenzyme Q8A
ENSG00000163069	sarcoglycan beta
ENSG00000163075	dynein axonemal heavy chain 1
ENSG00000163093	Bardet-Biedl syndrome 1
ENSG00000163104	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1,SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1,SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
ENSG00000163114	sperm associated antigen 17
ENSG00000163132	fibroblast growth factor receptor 1,msh homeobox 1,msh homeobox 1,Rho GTPase activating protein 29,small ubiquitin like modifier 1,tumor protein p63
ENSG00000163161	ERCC excision repair 5, endonuclease,M-phase specific PLK1 interacting protein,XPA, DNA damage recognition and repair factor
ENSG00000163170	bolA family member 3
ENSG00000163235	fibroblast growth factor receptor 1,small ubiquitin like modifier 1
ENSG00000163251	actin gamma 1,actin gamma 1,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5
ENSG00000163254	crystallin alpha A,Early-onset lamellar cataract,Early-onset nuclear cataract,Pulverulent cataract
ENSG00000163297	Infantile systemic hyalinosis,Juvenile hyaline fibromatosis
ENSG00000163344	mevalonate kinase
ENSG00000163347	claudin 1
ENSG00000163359	collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type VI alpha 1 chain,collagen type VI alpha 3 chain,Collagen VI-related congenital muscular dystrophy
ENSG00000163374	YY1 associated protein 1
ENSG00000163378	notch receptor 1
ENSG00000163380	actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle
ENSG00000163382	NAD(P)HX epimerase
ENSG00000163389	presenilin enhancer, gamma-secretase subunit,protein O-glucosyltransferase 1
ENSG00000163399	ATPase Na+/K+ transporting subunit alpha 1,ATPase Na+/K+ transporting subunit alpha 1,potassium inwardly rectifying channel subfamily J member 5
ENSG00000163421	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000163431	leiomodin 1
ENSG00000163453	insulin like growth factor binding protein 7
ENSG00000163482	dynein axonemal heavy chain 1
ENSG00000163491	dynein axonemal heavy chain 1
ENSG00000163492	Kallmann syndrome,Kallmann syndrome
ENSG00000163499	Early-onset anterior polar cataract,Early-onset nuclear cataract
ENSG00000163501	bone morphogenetic protein receptor type 1B,Indian hedgehog signaling molecule
ENSG00000163508	DISC1 scaffold protein
ENSG00000163513	forkhead box E3,Marfan syndrome type 2,mutS homolog 6,transforming growth factor beta 2,WW domain containing oxidoreductase
ENSG00000163527	STT3 oligosaccharyltransferase complex catalytic subunit B
ENSG00000163536	Progressive dementia with neuroserpin inclusion bodies
ENSG00000163541	succinate-CoA ligase GDP/ADP-forming subunit alpha
ENSG00000163545	Isolated anencephaly
ENSG00000163554	solute carrier family 4 member 1 (Diego blood group),spectrin alpha, erythrocytic 1
ENSG00000163581	solute carrier family 2 member 2
ENSG00000163599	Adult-onset myasthenia gravis,cytotoxic T-lymphocyte associated protein 4,cytotoxic T-lymphocyte associated protein 4,cytotoxic T-lymphocyte associated protein 4,major histocompatibility complex, class II, DP alpha 1,PX domain containing serine/threonine kinase like
ENSG00000163600	CD19 molecule
ENSG00000163608	RNA component of mitochondrial RNA processing endoribonuclease
ENSG00000163625	zinc finger MIZ-type containing 1
ENSG00000163631	albumin,albumin
ENSG00000163635	ataxin 7
ENSG00000163637	Autosomal dominant non-syndromic intellectual disability,prickle planar cell polarity protein 2
ENSG00000163638	Juvenile nephronophthisis
ENSG00000163644	Intermediate maple syrup urine disease
ENSG00000163646	S-phase cyclin A associated protein in the ER,Usher syndrome type 3
ENSG00000163666	forkhead box A2,Kallmann syndrome,POU class 1 homeobox 1,prokineticin receptor 2,WD repeat domain 11
ENSG00000163681	hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000163682	ribosomal protein L18
ENSG00000163687	complement C1q A chain,deoxyribonuclease 1 like 3
ENSG00000163702	C-type lectin domain containing 7A
ENSG00000163703	Complete atrioventricular septal defect-tetralogy of Fallot,Complete atrioventricular septal defect with ventricular hypoplasia,Partial atrioventricular septal defect without ventricular hypoplasia
ENSG00000163719	ryanodine receptor 1
ENSG00000163754	glycogenin 1,glycogenin 1
ENSG00000163755	Hermansky-Pudlak syndrome due to BLOC-2 deficiency
ENSG00000163795	S-phase cyclin A associated protein in the ER
ENSG00000163808	kinesin family member 15
ENSG00000163817	solute carrier family 6 member 20
ENSG00000163818	Bardet-Biedl syndrome 1
ENSG00000163820	Early-onset nuclear cataract,Total early-onset cataract
ENSG00000163823	interleukin 10
ENSG00000163872	sterile alpha motif domain containing 12
ENSG00000163898	lanosterol synthase,lysophosphatidic acid receptor 6
ENSG00000163902	MDS1 and EVI1 complex locus
ENSG00000163913	intraflagellar transport 122,intraflagellar transport 80
ENSG00000163914	peripherin 2,rhodopsin,S-phase cyclin A associated protein in the ER
ENSG00000163930	BRCA1 associated protein 1,BRCA1 associated protein 1,cyclin dependent kinase 4,cysteinyl leukotriene receptor 2,cysteinyl leukotriene receptor 2,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,zinc finger MIZ-type containing 1
ENSG00000163931	transketolase
ENSG00000163932	caspase 10,CD19 molecule,complement C1q A chain
ENSG00000163933	RFT1 homolog
ENSG00000163939	Clear cell papillary renal cell carcinoma
ENSG00000163945	ERCC excision repair 6, chromatin remodeling factor
ENSG00000163956	synthesis of cytochrome C oxidase 2
ENSG00000163961	ring finger protein 168
ENSG00000164007	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
ENSG00000164022	Autosomal recessive non-syndromic intellectual disability,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
ENSG00000164053	DNA replication helicase/nuclease 2
ENSG00000164073	DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000164087	POC1 centriolar protein A
ENSG00000164093	ATP binding cassette subfamily C member 9,forkhead box C1,paired like homeodomain 2,paired like homeodomain 2,paired like homeodomain 2,paired like homeodomain 2,paired like homeodomain 2
ENSG00000164099	Autosomal recessive non-syndromic intellectual disability
ENSG00000164107	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000164116	guanylate cyclase 1 soluble subunit alpha 1
ENSG00000164120	15-hydroxyprostaglandin dehydrogenase,15-hydroxyprostaglandin dehydrogenase,solute carrier organic anion transporter family member 2A1
ENSG00000164171	glycoprotein Ib platelet subunit alpha
ENSG00000164172	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
ENSG00000164175	solute carrier family 45 member 2
ENSG00000164182	transmembrane protein 126B
ENSG00000164187	zinc finger MIZ-type containing 1
ENSG00000164190	NIPBL cohesin loading factor,structural maintenance of chromosomes 1A
ENSG00000164199	hyperpolarization activated cyclic nucleotide gated potassium channel 1,Usher syndrome type 2
ENSG00000164209	ATP/GTP binding carboxypeptidase 1,solute carrier family 25 member 46
ENSG00000164252	angiogenic factor with G-patch and FHA domains 1
ENSG00000164258	transmembrane protein 126B
ENSG00000164266	calcium sensing receptor,chymotrypsin C,serine peptidase inhibitor Kazal type 1
ENSG00000164307	interleukin 10
ENSG00000164342	unc-93 homolog B1, TLR signaling regulator
ENSG00000164344	kallikrein B1
ENSG00000164347	GTP dependent ribosome recycling factor mitochondrial 2
ENSG00000164362	BCL6 corepressor,cyclin dependent kinase 4,dyskerin pseudouridine synthase 1,eukaryotic translation initiation factor 1A X-linked,nucleophosmin 1,perforin 1,surfactant protein A1,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1,tumor protein p53
ENSG00000164363	solute carrier family 6 member 20
ENSG00000164404	inhibin subunit alpha
ENSG00000164405	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000164414	solute carrier family 35 member A1
ENSG00000164418	Autosomal recessive non-syndromic intellectual disability
ENSG00000164438	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000164442	ankyrin repeat and sterile alpha motif domain containing 3,Atrial septal defect, ostium secundum type,Atrial septal defect, sinus venosus type,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,kinase insert domain receptor
ENSG00000164458	partner and localizer of BRCA2,T-box transcription factor T
ENSG00000164509	oncostatin M receptor
ENSG00000164512	protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22,TNF receptor superfamily member 1A
ENSG00000164532	Atrial septal defect, ostium secundum type,Atrial septal defect, ostium secundum type
ENSG00000164587	ribosomal protein S14
ENSG00000164588	actin like 6B,hyperpolarization activated cyclic nucleotide gated potassium channel 1
ENSG00000164597	component of oligomeric golgi complex 5
ENSG00000164610	S-phase cyclin A associated protein in the ER
ENSG00000164619	BMP binding endothelial regulator,BMP binding endothelial regulator
ENSG00000164690	Acquired schizencephaly,Alobar holoprosencephaly,fibroblast growth factor receptor 1,limb development membrane protein 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule,sonic hedgehog signaling molecule
ENSG00000164692	collagen type I alpha 1 chain,collagen type I alpha 1 chain,collagen type I alpha 2 chain,collagen type I alpha 2 chain,Osteogenesis imperfecta type 1,Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000164708	phosphoglycerate mutase 2
ENSG00000164733	cathepsin B
ENSG00000164736	tenascin XB
ENSG00000164742	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000164751	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000164754	RAD21 cohesin complex component,structural maintenance of chromosomes 1A
ENSG00000164761	TNF receptor superfamily member 11b,TNF receptor superfamily member 11b
ENSG00000164776	phosphorylase kinase regulatory subunit alpha 1
ENSG00000164778	RAB39B, member RAS oncogene family
ENSG00000164808	nuclear receptor subfamily 5 group A member 1
ENSG00000164818	dynein axonemal heavy chain 1
ENSG00000164904	aldehyde dehydrogenase 7 family member A1
ENSG00000164924	Autosomal dominant non-syndromic intellectual disability
ENSG00000164930	frizzled class receptor 6
ENSG00000164933	Multiple acyl-CoA dehydrogenase deficiency, mild type
ENSG00000164946	fibroblast growth factor receptor 1,FRAS1 related extracellular matrix 1,FRAS1 related extracellular matrix 1,Renal agenesis, unilateral
ENSG00000164951	Pyruvate dehydrogenase phosphatase deficiency
ENSG00000164953	centrosomal protein 120,doublecortin domain containing 2,thioredoxin domain containing 15,transmembrane protein 67,transmembrane protein 67
ENSG00000164961	VPS35 endosomal protein sorting factor like,WASH complex subunit 5
ENSG00000164976	junctional adhesion molecule 2
ENSG00000165006	ubiquitin associated protein 1,ubiquitin associated protein 1
ENSG00000165029	apolipoprotein A1,ATP binding cassette subfamily A member 1
ENSG00000165059	protein kinase cAMP-activated catalytic subunit gamma
ENSG00000165060	frataxin
ENSG00000165078	carboxypeptidase A6,carboxypeptidase A6
ENSG00000165091	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000165102	Sanfilippo syndrome type C,S-phase cyclin A associated protein in the ER
ENSG00000165119	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
ENSG00000165125	transient receptor potential cation channel subfamily V member 6
ENSG00000165138	Infantile nephronophthisis,Juvenile nephronophthisis
ENSG00000165140	fructose-bisphosphatase 1
ENSG00000165164	Male infertility due to large-headed multiflagellar polyploid spermatozoa
ENSG00000165168	cytochrome b-245 beta chain,X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
ENSG00000165171	syntaxin 1A
ENSG00000165181	sperm associated antigen 17
ENSG00000165186	RAB39B, member RAS oncogene family,X-linked non-syndromic intellectual disability
ENSG00000165194	protocadherin 19,sodium voltage-gated channel alpha subunit 1
ENSG00000165195	neurotrophic receptor tyrosine kinase 2,phosphatidylinositol glycan anchor biosynthesis class A,phosphatidylinositol glycan anchor biosynthesis class A,phosphatidylinositol glycan anchor biosynthesis class A,sodium voltage-gated channel alpha subunit 2
ENSG00000165219	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000165240	ATPase copper transporting alpha,ATPase copper transporting alpha,ATPase copper transporting alpha,ATPase copper transporting alpha
ENSG00000165280	cyclin F,transmembrane protein 106B,transmembrane protein 106B,valosin containing protein,valosin containing protein,valosin containing protein,valosin containing protein,valosin containing protein
ENSG00000165282	phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000165288	bromodomain and WD repeat domain containing 3,zinc finger MIZ-type containing 1
ENSG00000165370	aryl hydrocarbon receptor interacting protein
ENSG00000165392	WRN RecQ like helicase
ENSG00000165409	forkhead box E1,solute carrier family 26 member 4,thyroid stimulating hormone receptor,thyroid stimulating hormone receptor,thyroid stimulating hormone receptor
ENSG00000165410	actin alpha 1, skeletal muscle
ENSG00000165458	inositol polyphosphate phosphatase like 1,solute carrier family 35 member D1
ENSG00000165462	collagen type XXV alpha 1 chain
ENSG00000165474	gap junction protein beta 2,gap junction protein beta 2,gap junction protein beta 2,gap junction protein beta 2,gap junction protein beta 2,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000165478	modulator of VRAC current 1,phosphatase and tensin homolog
ENSG00000165496	sperm associated antigen 17,sperm associated antigen 17
ENSG00000165506	dynein axonemal heavy chain 1
ENSG00000165525	Autosomal recessive non-syndromic intellectual disability
ENSG00000165533	Bardet-Biedl syndrome 1,S-phase cyclin A associated protein in the ER
ENSG00000165548	transmembrane protein 63C
ENSG00000165588	forkhead box A2,membrane frizzled-related protein,orthodenticle homeobox 2,orthodenticle homeobox 2,peripherin 2,prokineticin receptor 2,sonic hedgehog signaling molecule
ENSG00000165617	dishevelled binding antagonist of beta catenin 1,Occipital encephalocele,spalt like transcription factor 1
ENSG00000165643	sperm associated antigen 17
ENSG00000165646	solute carrier family 18 member A2
ENSG00000165671	Beckwith-Wiedemann syndrome due to NSD1 mutation,embryonic ectoderm development,NK2 homeobox 5,nuclear receptor binding SET domain protein 1,nuclear receptor binding SET domain protein 1
ENSG00000165688	peptidase, mitochondrial processing subunit alpha
ENSG00000165694	FERM domain containing 7
ENSG00000165699	axin 1,interferon gamma,Isolated focal cortical dysplasia type IIb,TSC complex subunit 1
ENSG00000165702	growth factor independent 1B transcriptional repressor,tubulin alpha 8
ENSG00000165704	hypoxanthine phosphoribosyltransferase 1,hypoxanthine phosphoribosyltransferase 1
ENSG00000165730	fms related receptor tyrosine kinase 1
ENSG00000165731	ATPase copper transporting alpha,estrogen receptor 2,eukaryotic translation initiation factor 1A X-linked,Multiple endocrine neoplasia type 2A,Multiple endocrine neoplasia type 2B,paired like homeobox 2B,Renal agenesis, bilateral,Renal agenesis, unilateral,solute carrier family 25 member 11,succinate dehydrogenase complex subunit D
ENSG00000165733	plectin
ENSG00000165802	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000165821	ABL proto-oncogene 1, non-receptor tyrosine kinase,actin gamma 1,actin gamma 1,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5,frizzled class receptor 5
ENSG00000165898	iron-sulfur cluster assembly 2
ENSG00000165899	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000165915	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
ENSG00000165917	nebulin,Postsynaptic congenital myasthenic syndromes,solute carrier family 18 member A3
ENSG00000165953	secreted LY6/PLAUR domain containing 1
ENSG00000165970	ATPase family AAA domain containing 1
ENSG00000165995	hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000165996	mitogen-activated protein kinase kinase kinase 20
ENSG00000166033	ATP binding cassette subfamily A member 4,HtrA serine peptidase 1,HtrA serine peptidase 1,Malignant peripheral nerve sheath tumor with perineurial differentiation,Malignant triton tumor
ENSG00000166035	lipase C, hepatic type
ENSG00000166037	thyroid hormone receptor interactor 13
ENSG00000166068	sprouty related EVH1 domain containing 1
ENSG00000166086	junctional adhesion molecule 3
ENSG00000166123	glutamic--pyruvic transaminase 2
ENSG00000166126	amnion associated transmembrane protein
ENSG00000166147	ADAM metallopeptidase with thrombospondin type 1 motif 10,fibrillin 1,fibrillin 1,fibrillin 1,fibrillin 1,fibrillin 1,fibrillin 1,fibrillin 1,forkhead box E3,Marfan syndrome type 1,SKI proto-oncogene
ENSG00000166167	distal-less homeobox 6
ENSG00000166170	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000166189	Hermansky-Pudlak syndrome due to BLOC-2 deficiency
ENSG00000166206	cut like homeobox 2,gamma-aminobutyric acid type A receptor subunit alpha1,RAB39B, member RAS oncogene family
ENSG00000166224	sphingosine-1-phosphate lyase 1
ENSG00000166228	Pterin-4 alpha-carbinolamine dehydratase deficiency
ENSG00000166250	filamin A
ENSG00000166257	ATP binding cassette subfamily C member 9,hyperpolarization activated cyclic nucleotide gated potassium channel 4
ENSG00000166278	complement C2
ENSG00000166311	sphingomyelin phosphodiesterase 1,sphingomyelin phosphodiesterase 1
ENSG00000166326	paired box 6
ENSG00000166340	cathepsin D,cathepsin D,DnaJ heat shock protein family (Hsp40) member C5,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8,tripeptidyl peptidase 1
ENSG00000166341	dachsous cadherin-related 1,dachsous cadherin-related 1
ENSG00000166347	cytochrome b5 reductase 3,cytochrome b5 type A
ENSG00000166349	adenosine deaminase,INO80 complex ATPase subunit,recombination activating 1,recombination activating 1
ENSG00000166396	serpin family B member 7
ENSG00000166401	Peeling skin syndrome type A,serpin family B member 8
ENSG00000166402	S-phase cyclin A associated protein in the ER
ENSG00000166407	MYCN proto-oncogene, bHLH transcription factor
ENSG00000166411	S-phase cyclin A associated protein in the ER
ENSG00000166415	Autosomal recessive distal renal tubular acidosis,Hypomaturation amelogenesis imperfecta
ENSG00000166508	Autosomal recessive primary microcephaly
ENSG00000166546	brain expressed associated with NEDD4 1
ENSG00000166548	DNA polymerase gamma, catalytic subunit,thymidine kinase 2
ENSG00000166558	solute carrier family 38 member 8
ENSG00000166596	ankyrin repeat and sterile alpha motif domain containing 3
ENSG00000166603	Obesity due to melanocortin 4 receptor deficiency
ENSG00000166685	component of oligomeric golgi complex 1
ENSG00000166710	beta-2-microglobulin,transporter 2, ATP binding cassette subfamily B member
ENSG00000166716	zinc finger protein 592
ENSG00000166747	zinc finger MIZ-type containing 1
ENSG00000166762	cation channel sperm associated 2
ENSG00000166794	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4
ENSG00000166801	Autosomal dominant Kenny-Caffey syndrome,FAM111 trypsin like peptidase A
ENSG00000166813	family with sequence similarity 149 member B1,GLI family zinc finger 3,HYLS1 centriolar and ciliogenesis associated,kinesin family member 7
ENSG00000166819	perilipin 1
ENSG00000166828	CF transmembrane conductance regulator,Generalized pseudohypoaldosteronism type 1,sodium channel epithelial 1 subunit beta
ENSG00000166848	cyclin dependent kinase 4
ENSG00000166862	Autosomal dominant non-syndromic intellectual disability
ENSG00000166863	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000166866	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000166886	signal transducer and activator of transcription 6
ENSG00000166888	signal transducer and activator of transcription 6
ENSG00000166900	myosin VB
ENSG00000166923	bone morphogenetic protein receptor type 1A
ENSG00000166947	solute carrier family 4 member 1 (Diego blood group)
ENSG00000166948	CCAAT enhancer binding protein alpha,transglutaminase 6
ENSG00000166949	forkhead box E3,SMAD family member 3,transforming growth factor beta 2
ENSG00000166974	microtubule associated protein RP/EB family member 2
ENSG00000166986	methionyl-tRNA synthetase 1,methionyl-tRNA synthetase 1,methionyl-tRNA synthetase 1
ENSG00000167014	sperm associated antigen 17
ENSG00000167077	Complete hydatidiform mole
ENSG00000167098	Male infertility due to acephalic spermatozoa
ENSG00000167113	coenzyme Q4
ENSG00000167114	solute carrier family 27 member 4
ENSG00000167131	dynein axonemal heavy chain 1
ENSG00000167186	coenzyme Q9
ENSG00000167202	TBC1 domain family member 2B
ENSG00000167207	interleukin 23 receptor,interleukin 6,nucleotide binding oligomerization domain containing 2
ENSG00000167210	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000167244	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,insulin like growth factor 2,Silver-Russell syndrome due to 11p15 microduplication,Silver-Russell syndrome due to an imprinting defect of 11p15,Silver-Russell syndrome due to a point mutation
ENSG00000167286	CD3 delta subunit of T-cell receptor complex
ENSG00000167306	MYO5B-related progressive familial intrahepatic cholestasis,myosin VB,Progressive familial intrahepatic cholestasis type 1
ENSG00000167323	Combined immunodeficiency due to STIM1 deficiency,ORAI calcium release-activated calcium modulator 1,ORAI calcium release-activated calcium modulator 1
ENSG00000167371	phosphodiesterase 2A,PNKD metallo-beta-lactamase domain containing,proline rich transmembrane protein 2,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel alpha subunit 8,solute carrier family 2 member 1
ENSG00000167397	gamma-glutamyl carboxylase
ENSG00000167434	S-phase cyclin A associated protein in the ER
ENSG00000167460	tropomyosin 3,tubulin alpha 8
ENSG00000167468	glutathione peroxidase 4
ENSG00000167508	mevalonate kinase
ENSG00000167513	origin recognition complex subunit 4
ENSG00000167522	ankyrin repeat domain containing 11,ankyrin repeat domain containing 11
ENSG00000167548	lysine methyltransferase 2D,lysine methyltransferase 2D
ENSG00000167552	collagen type XXV alpha 1 chain,solute carrier family 18 member A3,tubulin alpha 1a,tubulin alpha 1a
ENSG00000167580	arginine vasopressin receptor 2
ENSG00000167588	glycerol-3-phosphate dehydrogenase 1
ENSG00000167625	zinc finger MIZ-type containing 1
ENSG00000167632	Autosomal recessive non-syndromic intellectual disability,trafficking protein particle complex subunit 9
ENSG00000167634	Complete hydatidiform mole,Partial hydatidiform mole
ENSG00000167642	serine peptidase inhibitor, Kunitz type 2
ENSG00000167645	Autosomal recessive non-syndromic intellectual disability
ENSG00000167646	dynein axonemal heavy chain 1
ENSG00000167654	ATCAY kinesin light chain interacting caytaxin
ENSG00000167658	eukaryotic translation elongation factor 2
ENSG00000167680	Autosomal dominant non-syndromic intellectual disability
ENSG00000167693	Autosomal recessive Robinow syndrome
ENSG00000167711	serpin family F member 2
ENSG00000167716	very low density lipoprotein receptor
ENSG00000167723	p53 apoptosis effector related to PMP22,transient receptor potential cation channel subfamily V member 3
ENSG00000167749	Hypomaturation amelogenesis imperfecta
ENSG00000167768	desmoplakin,keratin 1,keratin 1,keratin 1,keratin 1,keratin 1,keratin 1,keratin 10
ENSG00000167775	CD320 molecule
ENSG00000167791	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000167792	transmembrane protein 126B
ENSG00000167895	transmembrane channel like 6
ENSG00000167910	cytochrome P450 family 7 subfamily A member 1
ENSG00000167941	LDL receptor related protein 5,sclerostin,sclerostin
ENSG00000167972	ATP binding cassette subfamily A member 3,surfactant protein A1,surfactant protein B
ENSG00000167985	solute carrier family 25 member 11
ENSG00000167995	bestrophin 1,bestrophin 1,bestrophin 1,bestrophin 1,membrane frizzled-related protein,peripherin 2,S-phase cyclin A associated protein in the ER
ENSG00000167996	ferritin heavy chain 1
ENSG00000168000	BSCL2 lipid droplet biogenesis associated, seipin,BSCL2 lipid droplet biogenesis associated, seipin,caveolae associated protein 1,receptor accessory protein 1
ENSG00000168014	C2 domain containing 3 centriole elongation regulator
ENSG00000168016	tetratricopeptide repeat and ankyrin repeat containing 1
ENSG00000168026	cilia and flagella associated protein 251
ENSG00000168028	NK2 homeobox 5
ENSG00000168036	axin 1,B-Raf proto-oncogene, serine/threonine kinase,catenin beta 1,catenin beta 1,catenin beta 1,catenin beta 1,catenin beta 1,MET proto-oncogene, receptor tyrosine kinase,potassium inwardly rectifying channel subfamily J member 5,tumor protein p53
ENSG00000168040	Fas associated via death domain,fibroblast growth factor 3
ENSG00000168056	fibrillin 1,fibrillin 1,fibroblast growth factor receptor 1,latent transforming growth factor beta binding protein 3
ENSG00000168096	ankyrin repeat and sterile alpha motif domain containing 3
ENSG00000168137	SET domain containing 5
ENSG00000168214	notch receptor 1
ENSG00000168216	Methylmalonic acidemia with homocystinuria type cblF
ENSG00000168237	glycerate kinase
ENSG00000168263	potassium voltage-gated channel modifier subfamily V member 2
ENSG00000168264	CD19 molecule,PML nuclear body scaffold
ENSG00000168267	pancreas associated transcription factor 1a,pancreas associated transcription factor 1a
ENSG00000168269	Autosomal recessive distal renal tubular acidosis,solute carrier family 26 member 4
ENSG00000168275	synthesis of cytochrome C oxidase 1
ENSG00000168282	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ENSG00000168288	Methylcobalamin deficiency type cblDv1,Methylmalonic acidemia with homocystinuria, type cblD,Vitamin B12-responsive methylmalonic acidemia, type cblDv2
ENSG00000168291	Pyruvate dehydrogenase E1-beta deficiency
ENSG00000168297	PX domain containing serine/threonine kinase like
ENSG00000168298	H1.4 linker histone, cluster member
ENSG00000168303	M-phase specific PLK1 interacting protein
ENSG00000168329	ATP binding cassette subfamily A member 4
ENSG00000168356	Familial episodic pain syndrome with predominantly lower limb involvement,sodium voltage-gated channel alpha subunit 10,sodium voltage-gated channel alpha subunit 11,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9
ENSG00000168389	Autosomal recessive primary microcephaly
ENSG00000168394	transporter 2, ATP binding cassette subfamily B member
ENSG00000168411	RAD51 recombinase
ENSG00000168421	ras homolog family member H
ENSG00000168434	component of oligomeric golgi complex 7
ENSG00000168447	CF transmembrane conductance regulator,Generalized pseudohypoaldosteronism type 1,sodium channel epithelial 1 subunit beta
ENSG00000168453	EPS8 like 3,HR lysine demethylase and nuclear receptor corepressor,HR lysine demethylase and nuclear receptor corepressor
ENSG00000168477	tenascin XB,tenascin XB
ENSG00000168484	surfactant protein A1,surfactant protein B,surfactant protein C,surfactant protein C
ENSG00000168487	collagen type I alpha 1 chain,Osteogenesis imperfecta type 3
ENSG00000168509	hemojuvelin BMP co-receptor,homeostatic iron regulator
ENSG00000168530	myosin light chain 1
ENSG00000168538	trafficking protein particle complex subunit 11,trafficking protein particle complex subunit 11,trafficking protein particle complex subunit 11
ENSG00000168542	angiopoietin like 6,collagen type III alpha 1 chain,collagen type III alpha 1 chain,collagen type III alpha 1 chain,collagen type III alpha 1 chain
ENSG00000168575	junctional adhesion molecule 2
ENSG00000168610	interleukin 6 cytokine family signal transducer,PML nuclear body scaffold,signal transducer and activator of transcription 3,signal transducer and activator of transcription 3,signal transducer and activator of transcription 3,signal transducer and activator of transcription 3
ENSG00000168615	retinitis pigmentosa GTPase regulator
ENSG00000168621	ATPase copper transporting alpha,ladybird homeobox 1
ENSG00000168631	mucin like 3
ENSG00000168646	axin 2,AXIN2-related attenuated familial adenomatous polyposis,fibroblast growth factor receptor 1,small ubiquitin like modifier 1
ENSG00000168685	adenosine deaminase,interleukin 7 receptor
ENSG00000168724	SBDS ribosome maturation factor
ENSG00000168769	Janus kinase 2,Janus kinase 2,KIT proto-oncogene, receptor tyrosine kinase,Refractory anemia with excess blasts type 1,Refractory anemia with excess blasts type 2,tet methylcytosine dioxygenase 2,tet methylcytosine dioxygenase 2,tet methylcytosine dioxygenase 2,tet methylcytosine dioxygenase 2,tet methylcytosine dioxygenase 2
ENSG00000168778	centrosomal protein 120,thioredoxin domain containing 15
ENSG00000168811	interleukin 10,interleukin 12 receptor subunit beta 1
ENSG00000168827	G elongation factor mitochondrial 1
ENSG00000168878	surfactant protein B,surfactant protein B
ENSG00000168906	forkhead box E3
ENSG00000168924	phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000168944	Abelson helper integration site 1,centrosomal protein 120,KIAA0753
ENSG00000168958	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
ENSG00000168993	complexin 1,phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000169021	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000169031	Autosomal dominant Alport syndrome,Autosomal recessive Alport syndrome,collagen type IV alpha 3 chain,Digenic Alport syndrome,membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000169032	B-Raf proto-oncogene, serine/threonine kinase,mitogen-activated protein kinase kinase 1
ENSG00000169045	ABL proto-oncogene 1, non-receptor tyrosine kinase
ENSG00000169057	methyl-CpG binding protein 2,methyl-CpG binding protein 2,methyl-CpG binding protein 2,methyl-CpG binding protein 2,methyl-CpG binding protein 2,PX domain containing serine/threonine kinase like,RAB39B, member RAS oncogene family,X-linked non-syndromic intellectual disability
ENSG00000169071	Autosomal recessive Robinow syndrome,Brachydactyly type B1
ENSG00000169083	androgen receptor,androgen receptor,androgen receptor,androgen receptor
ENSG00000169087	8-oxoguanine DNA glycosylase
ENSG00000169105	carbohydrate sulfotransferase 14
ENSG00000169126	dynein axonemal heavy chain 1
ENSG00000169169	carnitine palmitoyltransferase 1C
ENSG00000169174	ATP binding cassette subfamily G member 5,microsomal triglyceride transfer protein,signal transducing adaptor family member 1
ENSG00000169184	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000169218	R-spondin 1
ENSG00000169247	SH3 domain and tetratricopeptide repeats 2
ENSG00000169271	heat shock protein family B (small) member 1
ENSG00000169297	DEAH-box helicase 37,DEAH-box helicase 37,nuclear receptor subfamily 0 group B member 1,SRY-box transcription factor 9
ENSG00000169306	X-linked non-syndromic intellectual disability
ENSG00000169313	purinergic receptor P2Y12
ENSG00000169344	UMOD-related autosomal dominant tubulointerstitial kidney disease
ENSG00000169359	solute carrier family 33 member 1,solute carrier family 33 member 1
ENSG00000169372	Autosomal recessive non-syndromic intellectual disability
ENSG00000169375	15q24 microdeletion syndrome,SIN3A-related intellectual disability syndrome due to a point mutation,SIN3 transcription regulator family member A
ENSG00000169379	centrosomal protein 120
ENSG00000169427	potassium two pore domain channel subfamily K member 9
ENSG00000169432	hyperpolarization activated cyclic nucleotide gated potassium channel 1,sodium voltage-gated channel alpha subunit 1,sodium voltage-gated channel alpha subunit 10,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9
ENSG00000169515	cullin 7
ENSG00000169551	sperm associated antigen 17
ENSG00000169554	Mowat-Wilson syndrome due to a ZEB2 point mutation,Mowat-Wilson syndrome due to monosomy 2q22
ENSG00000169562	gap junction protein beta 1,gap junction protein beta 1
ENSG00000169567	histidine triad nucleotide binding protein 1
ENSG00000169594	nuclear receptor subfamily 5 group A member 1
ENSG00000169599	NFU1 iron-sulfur cluster scaffold
ENSG00000169604	ANTXR cell adhesion molecule 1,fms related receptor tyrosine kinase 4
ENSG00000169607	cytoskeleton associated protein 2 like
ENSG00000169641	arginine-glutamic acid dipeptide repeats
ENSG00000169679	thyroid hormone receptor interactor 13
ENSG00000169692	caveolae associated protein 1
ENSG00000169696	proline rich mitotic checkpoint control factor,transcription factor binding to IGHM enhancer 3
ENSG00000169704	glycoprotein Ib platelet subunit alpha
ENSG00000169714	CCHC-type zinc finger nucleic acid binding protein
ENSG00000169738	dicarbonyl and L-xylulose reductase
ENSG00000169750	zinc finger MIZ-type containing 1
ENSG00000169762	transmembrane anterior posterior transformation 1
ENSG00000169783	dopamine receptor D3
ENSG00000169814	biotinidase
ENSG00000169836	Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000169855	WD repeat domain 11
ENSG00000169862	semaphorin 5A,sterile alpha motif domain containing 12
ENSG00000169884	distal-less homeobox 6,small ubiquitin like modifier 1
ENSG00000169896	PX domain containing serine/threonine kinase like
ENSG00000169919	glucuronidase beta
ENSG00000169933	X-linked non-syndromic intellectual disability
ENSG00000169946	DEAH-box helicase 37,kinase insert domain receptor,lon peptidase 1, mitochondrial
ENSG00000170004	chromodomain helicase DNA binding protein 3
ENSG00000170027	actin like 6B
ENSG00000170099	serpin family A member 6
ENSG00000170113	NIPA magnesium transporter 1,NIPA magnesium transporter 1
ENSG00000170175	Postsynaptic congenital myasthenic syndromes,Postsynaptic congenital myasthenic syndromes
ENSG00000170262	steroidogenic acute regulatory protein
ENSG00000170264	S-phase cyclin A associated protein in the ER
ENSG00000170266	GM1 gangliosidosis type 1,GM1 gangliosidosis type 2,GM1 gangliosidosis type 3,Mucopolysaccharidosis type 4B
ENSG00000170270	O-sialoglycoprotein endopeptidase
ENSG00000170275	Osteogenesis imperfecta type 2,Osteogenesis imperfecta type 3,Osteogenesis imperfecta type 4,prolyl 4-hydroxylase subunit beta
ENSG00000170289	cyclic nucleotide gated channel subunit beta 3,phosphodiesterase 6C,phosphodiesterase 6C
ENSG00000170315	grainyhead like transcription factor 3,grainyhead like transcription factor 3,grainyhead like transcription factor 3,ubiquitin B
ENSG00000170345	caveolae associated protein 1
ENSG00000170370	Acquired schizencephaly
ENSG00000170374	Osteogenesis imperfecta type 4,sclerostin
ENSG00000170381	semaphorin 3E
ENSG00000170426	ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000170430	cyclin dependent kinase 4,Giant cell glioblastoma,Gliosarcoma
ENSG00000170442	keratin 86
ENSG00000170445	histidyl-tRNA synthetase 1,Usher syndrome type 3
ENSG00000170465	keratin 6C
ENSG00000170477	keratin 4
ENSG00000170484	keratin 74,keratin 85,lysophosphatidic acid receptor 6
ENSG00000170498	Genetic central precocious puberty in male,makorin ring finger protein 3,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000170523	keratin 86,transient receptor potential cation channel subfamily M member 4
ENSG00000170540	ADP ribosylation factor like GTPase 6 interacting protein 1
ENSG00000170558	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ENSG00000170561	BCL6 corepressor
ENSG00000170577	SIX homeobox 2
ENSG00000170581	interferon alpha and beta receptor subunit 2
ENSG00000170615	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000170624	sarcoglycan delta,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000170734	DNA polymerase eta
ENSG00000170807	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000170819	Early-onset lamellar cataract,Early-onset sutural cataract,Pulverulent cataract
ENSG00000170820	follicle stimulating hormone receptor,inhibin subunit alpha,nuclear receptor subfamily 5 group A member 1
ENSG00000170835	ATP binding cassette subfamily C member 8
ENSG00000170836	cadherin 1,protein phosphatase, Mg2+/Mn2+ dependent 1D
ENSG00000170876	Autosomal dominant Emery-Dreifuss muscular dystrophy,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ENSG00000170881	8-oxoguanine DNA glycosylase
ENSG00000170892	tRNA splicing endonuclease subunit 15
ENSG00000170893	thyrotropin releasing hormone
ENSG00000170921	zinc finger MIZ-type containing 1
ENSG00000170927	DAZ interacting zinc finger protein 1 like,PKHD1 ciliary IPT domain containing fibrocystin/polyductin
ENSG00000170956	serpin family A member 1
ENSG00000171051	formyl peptide receptor 1
ENSG00000171094	ALK-positive anaplastic large cell lymphoma,ALK receptor tyrosine kinase,eukaryotic translation initiation factor 1A X-linked,MYCN proto-oncogene, bHLH transcription factor,MYCN proto-oncogene, bHLH transcription factor,tropomyosin 3
ENSG00000171100	mastermind like domain containing 1,myotubularin 1
ENSG00000171105	insulin receptor,insulin receptor,insulin receptor,insulin receptor
ENSG00000171119	ATPase copper transporting alpha
ENSG00000171135	jagunal homolog 1
ENSG00000171202	transmembrane protein 126A
ENSG00000171204	transmembrane protein 126B
ENSG00000171206	Dmx like 2
ENSG00000171298	Glycogen storage disease due to acid maltase deficiency, infantile onset,Glycogen storage disease due to acid maltase deficiency, late-onset
ENSG00000171302	calcium activated nucleotidase 1,chondroitin sulfate N-acetylgalactosaminyltransferase 1
ENSG00000171303	Heritable pulmonary arterial hypertension
ENSG00000171316	adenosine deaminase,Kallmann syndrome,Normosmic congenital hypogonadotropic hypogonadism,semaphorin 3E
ENSG00000171320	establishment of sister chromatid cohesion N-acetyltransferase 2,establishment of sister chromatid cohesion N-acetyltransferase 2
ENSG00000171365	Dent disease type 1
ENSG00000171385	hyperpolarization activated cyclic nucleotide gated potassium channel 4,potassium voltage-gated channel subfamily D member 3
ENSG00000171401	keratin 4
ENSG00000171403	keratin 1
ENSG00000171435	kinase suppressor of ras 2
ENSG00000171453	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,RNA polymerase I subunit B
ENSG00000171456	ASXL transcriptional regulator 1,KIT proto-oncogene, receptor tyrosine kinase,platelet derived growth factor receptor beta,tet methylcytosine dioxygenase 2,tet methylcytosine dioxygenase 2
ENSG00000171503	Multiple acyl-CoA dehydrogenase deficiency, mild type,Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ENSG00000171532	Dmx like 2
ENSG00000171551	endothelin converting enzyme like 1
ENSG00000171557	Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171560	AFib amyloidosis,Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171564	Familial afibrinogenemia,Familial dysfibrinogenemia,Familial hypodysfibrinogenemia,Familial hypofibrinogenemia
ENSG00000171595	dynein axonemal heavy chain 1
ENSG00000171608	kinetochore localized astrin (SPAG5) binding protein,phosphatase and tensin homolog
ENSG00000171634	bromodomain PHD finger transcription factor,zinc finger MIZ-type containing 1
ENSG00000171680	pleckstrin homology and RhoGEF domain containing G5,pleckstrin homology and RhoGEF domain containing G5
ENSG00000171714	anoctamin 5,anoctamin 5,anoctamin 5
ENSG00000171723	ATPase family AAA domain containing 1,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
ENSG00000171735	calmodulin binding transcription activator 1,transcription factor binding to IGHM enhancer 3
ENSG00000171759	Classic phenylketonuria,Mild hyperphenylalaninemia,Mild phenylketonuria,phenylalanine hydroxylase,Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
ENSG00000171763	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000171766	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,glycine amidinotransferase
ENSG00000171772	inhibin subunit alpha,sperm associated antigen 17
ENSG00000171791	BCL2 apoptosis regulator,BCL6 transcription repressor,MYC proto-oncogene, bHLH transcription factor
ENSG00000171793	CTP synthase 1
ENSG00000171812	solute carrier family 4 member 11,visual system homeobox 1
ENSG00000171843	lysine methyltransferase 2A
ENSG00000171853	trafficking protein particle complex subunit 12
ENSG00000171862	Bilateral frontoparietal polymicrogyria,Juvenile polyposis of infancy,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,phosphatase and tensin homolog,Squamous cell carcinoma of salivary glands,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b,TNF receptor superfamily member 10b
ENSG00000171863	ribosomal protein L18
ENSG00000171865	ribonucleotide reductase regulatory TP53 inducible subunit M2B
ENSG00000171867	prion protein,prion protein,prion protein,prion protein,prion protein,prion protein,prion protein
ENSG00000171953	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000171954	sulfotransferase family 2B member 1
ENSG00000171988	Germinoma of the central nervous system,T-box transcription factor 1
ENSG00000172005	mal, T cell differentiation protein
ENSG00000172007	dymeclin
ENSG00000172037	laminin subunit beta 2,Synaptic congenital myasthenic syndromes
ENSG00000172053	glutaminyl-tRNA synthetase 1,glutaminyl-tRNA synthetase 1
ENSG00000172059	ATP binding cassette subfamily C member 8
ENSG00000172062	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3,Proximal spinal muscular atrophy type 4
ENSG00000172071	eukaryotic translation initiation factor 2 alpha kinase 3
ENSG00000172115	Autosomal thrombocytopenia with normal platelets
ENSG00000172175	MALT1 paracaspase,MALT1 paracaspase
ENSG00000172243	C-type lectin domain containing 7A
ENSG00000172269	Congenital myasthenic syndromes with glycosylation defect,dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ENSG00000172315	O-sialoglycoprotein endopeptidase
ENSG00000172331	bisphosphoglycerate mutase,bisphosphoglycerate mutase
ENSG00000172339	Congenital myasthenic syndromes with glycosylation defect
ENSG00000172354	sodium voltage-gated channel alpha subunit 5,zinc finger MIZ-type containing 1
ENSG00000172361	ankyrin repeat and sterile alpha motif domain containing 3,polycystin 1 like 1, transient receptor potential channel interacting
ENSG00000172379	prokineticin receptor 2
ENSG00000172399	filamin C
ENSG00000172409	cleavage factor polyribonucleotide kinase subunit 1
ENSG00000172426	dynein axonemal heavy chain 1
ENSG00000172482	Primary hyperoxaluria type 1
ENSG00000172493	Mixed phenotype acute leukemia with t(v;11q23.3)
ENSG00000172500	FGF1 intracellular binding protein
ENSG00000172534	Methylmalonic acidemia with homocystinuria, type cblX,X-linked non-syndromic intellectual disability
ENSG00000172548	ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000172572	phosphodiesterase 3A
ENSG00000172575	caspase 10
ENSG00000172638	EGF containing fibulin extracellular matrix protein 2,EGF containing fibulin extracellular matrix protein 2
ENSG00000172817	cytochrome P450 family 7 subfamily B member 1,cytochrome P450 family 7 subfamily B member 1
ENSG00000172867	keratin 2
ENSG00000172890	kynureninase
ENSG00000172893	7-dehydrocholesterol reductase
ENSG00000172915	Autosomal dominant non-syndromic intellectual disability
ENSG00000172922	LSM11, U7 small nuclear RNA associated
ENSG00000172936	MYD88 innate immune signal transduction adaptor,MYD88 innate immune signal transduction adaptor
ENSG00000172943	PHD finger protein 8
ENSG00000172987	heparanase 2 (inactive)
ENSG00000173039	E74 like ETS transcription factor 4,RELA proto-oncogene, NF-kB subunit,zinc finger translocation associated
ENSG00000173040	dynein cytoplasmic 2 light intermediate chain 1,EvC ciliary complex subunit 1
ENSG00000173068	basonuclin zinc finger protein 2
ENSG00000173085	Multiple system atrophy, cerebellar type,Multiple system atrophy, parkinsonian type
ENSG00000173175	adenylate cyclase 5,NK2 homeobox 1
ENSG00000173218	VANGL planar cell polarity protein 1
ENSG00000173226	centrosomal protein 290,ubiquitin specific peptidase 45
ENSG00000173369	complement C2
ENSG00000173372	complement C1q A chain,complement C2
ENSG00000173376	Kallmann syndrome
ENSG00000173402	dystroglycan 1,dystroglycan 1,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000173406	DAB adaptor protein 1
ENSG00000173409	actin like 6B
ENSG00000173418	Autosomal recessive non-syndromic intellectual disability
ENSG00000173432	serum amyloid A1
ENSG00000173531	semaphorin 4D
ENSG00000173540	CDP-L-ribitol pyrophosphorylase A,Congenital myasthenic syndromes with glycosylation defect,GDP-mannose pyrophosphorylase B,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1
ENSG00000173559	PML nuclear body scaffold
ENSG00000173575	cut like homeobox 2,solute carrier family 2 member 1
ENSG00000173588	Infantile nephronophthisis
ENSG00000173599	Pyruvate carboxylase deficiency, benign type,Pyruvate carboxylase deficiency, infantile type,Pyruvate carboxylase deficiency, severe neonatal type
ENSG00000173614	retinitis pigmentosa GTPase regulator,ubiquitin specific peptidase 45
ENSG00000173674	eukaryotic translation initiation factor 1A X-linked
ENSG00000173698	adhesion G protein-coupled receptor G2
ENSG00000173715	Complete hydatidiform mole
ENSG00000173757	PML nuclear body scaffold,signal transducer and activator of transcription 5B
ENSG00000173801	desmoplakin,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant,junction plakoglobin
ENSG00000173821	diaphanous related formin 1
ENSG00000173894	DEAH-box helicase 37
ENSG00000173898	spectrin beta, non-erythrocytic 2,spectrin beta, non-erythrocytic 2
ENSG00000173915	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000173976	retinitis pigmentosa GTPase regulator
ENSG00000173991	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A,titin-cap
ENSG00000174007	Bardet-Biedl syndrome 1,Obesity due to CEP19 deficiency
ENSG00000174080	cathepsin D
ENSG00000174099	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000174106	LEM domain containing 3,LEM domain containing 3,LEM domain containing 3
ENSG00000174173	tRNA methyltransferase 10C, mitochondrial RNase P subunit
ENSG00000174227	phosphatidylinositol glycan anchor biosynthesis class G,phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000174231	S-phase cyclin A associated protein in the ER,zinc finger MIZ-type containing 1
ENSG00000174233	contactin associated protein 1
ENSG00000174358	collectrin, amino acid transport regulator,solute carrier family 6 member 20
ENSG00000174405	adenosine deaminase,DNA ligase 4,X-ray repair cross complementing 4
ENSG00000174417	thyrotropin releasing hormone receptor
ENSG00000174437	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2,ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ENSG00000174469	contactin associated protein 2,RAB39B, member RAS oncogene family
ENSG00000174483	Bardet-Biedl syndrome 1,S-phase cyclin A associated protein in the ER
ENSG00000174502	serpin family A member 1
ENSG00000174527	ladybird homeobox 1
ENSG00000174611	kyphoscoliosis peptidase,kyphoscoliosis peptidase
ENSG00000174640	solute carrier organic anion transporter family member 2A1,solute carrier organic anion transporter family member 2A1
ENSG00000174672	Autosomal dominant non-syndromic intellectual disability
ENSG00000174684	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000174697	Obesity due to congenital leptin deficiency
ENSG00000174705	SH3 and PX domains 2B
ENSG00000174720	La ribonucleoprotein 7, transcriptional regulator
ENSG00000174748	ribosomal protein L18
ENSG00000174775	eukaryotic translation initiation factor 1A X-linked,HRas proto-oncogene, GTPase,HRas proto-oncogene, GTPase,HRas proto-oncogene, GTPase,HRas proto-oncogene, GTPase
ENSG00000174780	signal recognition particle 72
ENSG00000174792	Hypomaturation amelogenesis imperfecta
ENSG00000174799	Autosomal recessive primary microcephaly
ENSG00000174804	catenin beta 1,frizzled class receptor 4,LDL receptor related protein 5
ENSG00000174842	glomulin, FKBP associated protein
ENSG00000174886	transmembrane protein 126B
ENSG00000174891	Autosomal recessive non-syndromic intellectual disability
ENSG00000174917	mitochondrial contact site and cristae organizing system subunit 13
ENSG00000174963	Isolated Dandy-Walker malformation with hydrocephalus,Isolated Dandy-Walker malformation without hydrocephalus
ENSG00000174990	carbonic anhydrase 5A
ENSG00000174996	fibronectin leucine rich transmembrane protein 1
ENSG00000175054	ATR serine/threonine kinase,DNA replication helicase/nuclease 2
ENSG00000175065	keratin 86,lanosterol synthase
ENSG00000175084	desmin,desmin,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000175097	adenosine deaminase,INO80 complex ATPase subunit,recombination activating 1
ENSG00000175104	Autosomal dominant hypohidrotic ectodermal dysplasia
ENSG00000175110	mitochondrial ribosomal protein S22,nuclear receptor subfamily 5 group A member 1
ENSG00000175115	phosphofurin acidic cluster sorting protein 1
ENSG00000175197	Myxoid/round cell liposarcoma
ENSG00000175198	propionyl-CoA carboxylase subunit alpha
ENSG00000175206	ATP binding cassette subfamily C member 9,sodium voltage-gated channel alpha subunit 5
ENSG00000175213	catenin beta 1,S-phase cyclin A associated protein in the ER
ENSG00000175283	dolichol kinase,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000175294	cilia and flagella associated protein 251
ENSG00000175325	forkhead box A2,POU class 1 homeobox 1,SRY-box transcription factor 3
ENSG00000175334	BAF nuclear assembly factor 1
ENSG00000175344	cholinergic receptor nicotinic alpha 7 subunit
ENSG00000175354	interleukin 23 receptor,interleukin 6,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22
ENSG00000175387	forkhead box E3,transforming growth factor beta 2
ENSG00000175426	Obesity due to prohormone convertase I deficiency
ENSG00000175445	Familial lipoprotein lipase deficiency
ENSG00000175505	cytokine receptor like factor 1,kelch like family member 7
ENSG00000175536	lipoyl(octanoyl) transferase 2
ENSG00000175538	hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel alpha subunit 4
ENSG00000175544	cholinergic receptor nicotinic alpha 4 subunit,rhodopsin
ENSG00000175567	uncoupling protein 2
ENSG00000175595	Cockayne syndrome type 1,ERCC excision repair 5, endonuclease,RAD51 recombinase,XPA, DNA damage recognition and repair factor
ENSG00000175600	succinyl-CoA:glutarate-CoA transferase
ENSG00000175606	transmembrane protein 70
ENSG00000175643	RecQ mediated genome instability 2
ENSG00000175707	Autosomal dominant hypohidrotic ectodermal dysplasia
ENSG00000175745	nuclear receptor subfamily 2 group F member 1
ENSG00000175832	ETS transcription factor ERG
ENSG00000175877	syntaxin 1A
ENSG00000175894	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000175920	Postsynaptic congenital myasthenic syndromes,solute carrier family 18 member A3
ENSG00000176022	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,beta-1,3-galactosyltransferase 6
ENSG00000176058	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000176076	hyperpolarization activated cyclic nucleotide gated potassium channel 4,potassium voltage-gated channel subfamily E regulatory subunit 5
ENSG00000176165	actin like 6B,FOXG1 syndrome due to 14q12 microdeletion,FOXG1 syndrome due to intragenic alteration
ENSG00000176225	rotatin
ENSG00000176340	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000176387	hydroxysteroid 11-beta dehydrogenase 2
ENSG00000176410	NADH:ubiquinone oxidoreductase core subunit S2,syntaxin 1A
ENSG00000176428	syntaxin 1A
ENSG00000176542	phosphatase and tensin homolog
ENSG00000176619	lamin B2,lamin B2
ENSG00000176692	forkhead box C2
ENSG00000176697	brain derived neurotrophic factor,ladybird homeobox 1
ENSG00000176715	acyl-CoA synthetase family member 3
ENSG00000176842	iroquois homeobox 5
ENSG00000176884	Autosomal dominant non-syndromic intellectual disability,Bilateral generalized polymicrogyria,Dmx like 2
ENSG00000176887	AT-rich interaction domain 2
ENSG00000176890	nucleophosmin 1
ENSG00000176915	Autosomal recessive primary microcephaly
ENSG00000176919	complement C5
ENSG00000176986	T-box transcription factor 1
ENSG00000177000	Isolated anencephaly,Isolated exencephaly,methylenetetrahydrofolate reductase,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000177030	Autosomal dominant non-syndromic intellectual disability,DEAF1 transcription factor,DEAF1 transcription factor
ENSG00000177045	SIX homeobox 1
ENSG00000177082	O-sialoglycoprotein endopeptidase,zinc finger protein 592
ENSG00000177084	bone morphogenetic protein receptor type 1A,cyclin dependent kinase inhibitor 1C,DNA polymerase epsilon, catalytic subunit,Polymerase proofreading-related adenomatous polyposis
ENSG00000177098	ATP binding cassette subfamily C member 9,triadin
ENSG00000177106	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000177119	anoctamin 6
ENSG00000177156	transaldolase 1
ENSG00000177189	ribosomal protein S6 kinase A3,ribosomal protein S6 kinase A3,X-linked non-syndromic intellectual disability
ENSG00000177192	pseudouridine synthase 1
ENSG00000177239	Autosomal recessive non-syndromic intellectual disability,mannosidase alpha class 1B member 1
ENSG00000177301	actin like 6B,actin like 6B
ENSG00000177302	RecQ mediated genome instability 2
ENSG00000177374	HIC ZBTB transcriptional repressor 1
ENSG00000177409	sterile alpha motif domain containing 9 like,sterile alpha motif domain containing 9 like,sterile alpha motif domain containing 9 like
ENSG00000177426	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000177455	CD19 molecule
ENSG00000177469	caveolae associated protein 1
ENSG00000177542	Dmx like 2,sodium voltage-gated channel alpha subunit 2,solute carrier family 25 member 22
ENSG00000177551	Normosmic congenital hypogonadotropic hypogonadism
ENSG00000177565	PML nuclear body scaffold,TBL1X/Y related 1
ENSG00000177570	sterile alpha motif domain containing 12
ENSG00000177628	Fetal Gaucher disease,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type 1,Gaucher disease type 2,Gaucher disease type 3,glucosylceramidase beta 1,glucosylceramidase beta 1,synuclein alpha
ENSG00000177646	acyl-CoA dehydrogenase family member 9
ENSG00000177663	C-type lectin domain containing 7A
ENSG00000177666	patatin like phospholipase domain containing 2,patatin like phospholipase domain containing 2
ENSG00000177697	CD151 molecule (Raph blood group)
ENSG00000177706	FAM20C golgi associated secretory pathway kinase
ENSG00000177728	transmembrane protein 94
ENSG00000177731	DEAF1 transcription factor
ENSG00000177807	potassium inwardly rectifying channel subfamily J member 10,solute carrier family 26 member 4
ENSG00000177868	zinc finger MIZ-type containing 1
ENSG00000177917	G protein subunit alpha 11
ENSG00000177954	ribosomal protein L18
ENSG00000177990	Male infertility due to globozoospermia
ENSG00000178031	ADAMTS like 1
ENSG00000178035	GTP cyclohydrolase 1
ENSG00000178057	transmembrane protein 126B
ENSG00000178127	NADH:ubiquinone oxidoreductase core subunit V2,transmembrane protein 126B
ENSG00000178149	actin like 6B
ENSG00000178188	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,SH2B adaptor protein 1,SH2B adaptor protein 1
ENSG00000178209	plectin,plectin,plectin,plectin,plectin
ENSG00000178222	sperm associated antigen 17
ENSG00000178235	SLIT and NTRK like family member 1
ENSG00000178394	5-hydroxytryptamine receptor 1A
ENSG00000178445	Atypical glycine encephalopathy,Infantile glycine encephalopathy,Neonatal glycine encephalopathy
ENSG00000178449	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000178522	Hypoplastic amelogenesis imperfecta
ENSG00000178537	solute carrier family 25 member 20
ENSG00000178538	very low density lipoprotein receptor
ENSG00000178562	cytotoxic T-lymphocyte associated protein 4,cytotoxic T-lymphocyte associated protein 4
ENSG00000178568	Autosomal dominant non-syndromic intellectual disability,cyclin F
ENSG00000178573	Cerulean cataract,crystallin alpha A,MAF bZIP transcription factor,Pulverulent cataract
ENSG00000178623	semaphorin 4D
ENSG00000178691	embryonic ectoderm development,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
ENSG00000178726	Atypical hemolytic uremic syndrome with complement gene abnormality,thrombomodulin
ENSG00000178741	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000178802	mannose phosphate isomerase
ENSG00000178814	5-oxoprolinase, ATP-hydrolysing
ENSG00000178919	eukaryotic translation initiation factor 1A X-linked,forkhead box E1,forkhead box E1,multiple inositol-polyphosphate phosphatase 1
ENSG00000178927	cytochrome b-245 beta chain
ENSG00000178952	Tu translation elongation factor, mitochondrial
ENSG00000178971	CST telomere replication complex component 1,nucleophosmin 1
ENSG00000179008	sperm associated antigen 17
ENSG00000179029	thioredoxin domain containing 15
ENSG00000179085	dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ENSG00000179091	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000179111	delta like canonical Notch ligand 3
ENSG00000179142	cytochrome P450 family 11 subfamily B member 1,Early-onset familial hypoaldosteronism
ENSG00000179148	arachidonate 12-lipoxygenase, 12R type,ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000179151	Autosomal recessive non-syndromic intellectual disability
ENSG00000179163	alpha-L-fucosidase 1
ENSG00000179168	Male infertility due to globozoospermia
ENSG00000179218	coagulation factor V,Janus kinase 2,tet methylcytosine dioxygenase 2
ENSG00000179270	S-phase cyclin A associated protein in the ER
ENSG00000179295	protein tyrosine phosphatase non-receptor type 11,protein tyrosine phosphatase non-receptor type 11,RAS related,RAS related
ENSG00000179344	cytokine receptor like factor 1,hypocretin neuropeptide precursor,hypocretin neuropeptide precursor,major histocompatibility complex, class II, DQ beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,TNF receptor superfamily member 1A
ENSG00000179348	CCAAT enhancer binding protein alpha,GATA binding protein 2,GATA binding protein 2,GATA binding protein 2
ENSG00000179364	actin like 6B
ENSG00000179403	DnaJ heat shock protein family (Hsp40) member B2
ENSG00000179455	Genetic central precocious puberty in male,makorin ring finger protein 3
ENSG00000179456	zinc finger and BTB domain containing 18
ENSG00000179477	arachidonate 12-lipoxygenase, 12R type,ATP binding cassette subfamily A member 12,sulfotransferase family 2B member 1
ENSG00000179520	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000179532	Male infertility due to large-headed multiflagellar polyploid spermatozoa,sperm associated antigen 17
ENSG00000179583	regulatory factor X5
ENSG00000179630	major histocompatibility complex, class II, DR beta 1
ENSG00000179774	frizzled class receptor 4,peroxidasin
ENSG00000179855	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000179915	neurexin 1,RAB39B, member RAS oncogene family
ENSG00000179941	Bardet-Biedl syndrome 1
ENSG00000179950	poly(U) binding splicing factor 60,poly(U) binding splicing factor 60
ENSG00000179981	teashirt zinc finger homeobox 1
ENSG00000180053	ATP binding cassette subfamily C member 9,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,kinase insert domain receptor,NK2 homeobox 6
ENSG00000180176	tyrosine hydroxylase
ENSG00000180210	coagulation factor II, thrombin,coagulation factor II, thrombin,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000180228	protein activator of interferon induced protein kinase EIF2AK2
ENSG00000180316	ATP binding cassette subfamily A member 12
ENSG00000180318	ALX homeobox 1
ENSG00000180340	Autosomal dominant omodysplasia,Autosomal dominant Robinow syndrome
ENSG00000180370	p21 (RAC1) activated kinase 2
ENSG00000180398	multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
ENSG00000180447	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000180509	ATP binding cassette subfamily C member 9,potassium voltage-gated channel subfamily E regulatory subunit 1,triadin
ENSG00000180613	GS homeobox 2
ENSG00000180644	perforin 1,perforin 1,perforin 1
ENSG00000180772	X-linked non-syndromic intellectual disability
ENSG00000180871	C-X-C motif chemokine receptor 2
ENSG00000180879	signal sequence receptor subunit 4
ENSG00000180902	D-2-hydroxyglutarate dehydrogenase
ENSG00000180921	Hypocalcified amelogenesis imperfecta
ENSG00000181004	Bardet-Biedl syndrome 1
ENSG00000181027	CDP-L-ribitol pyrophosphorylase A,fukutin related protein,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1,protein O-mannosyltransferase 1
ENSG00000181038	Autosomal recessive non-syndromic intellectual disability
ENSG00000181090	Kleefstra syndrome due to 9q34 microdeletion,Kleefstra syndrome due to a point mutation
ENSG00000181163	fms related receptor tyrosine kinase 3,fms related receptor tyrosine kinase 3,nucleophosmin 1,nucleophosmin 1,PML nuclear body scaffold,tyrosine kinase 2,tyrosine kinase 2
ENSG00000181192	dehydrogenase E1 and transketolase domain containing 1,dehydrogenase E1 and transketolase domain containing 1
ENSG00000181291	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000181378	cilia and flagella associated protein 251
ENSG00000181392	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000181449	membrane frizzled-related protein,prokineticin receptor 2,sonic hedgehog signaling molecule,SRY-box transcription factor 2
ENSG00000181481	ring finger protein 135
ENSG00000181523	Sanfilippo syndrome type A
ENSG00000181541	mab-21 like 2
ENSG00000181544	FA complementation group B,RAD51 recombinase
ENSG00000181555	nuclear receptor binding SET domain protein 1,SET domain containing 2, histone lysine methyltransferase,SET domain containing 2, histone lysine methyltransferase
ENSG00000181585	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000181634	interleukin 12 receptor subunit beta 1
ENSG00000181690	Pleomorphic salivary gland adenoma,Silver-Russell syndrome due to a point mutation
ENSG00000181722	zinc finger and BTB domain containing 20
ENSG00000181786	cilia and flagella associated protein 251
ENSG00000181804	RAB39B, member RAS oncogene family
ENSG00000181830	Leukocyte adhesion deficiency type II
ENSG00000181873	iron-sulfur cluster assembly factor IBA57,iron-sulfur cluster assembly factor IBA57
ENSG00000182004	lanosterol synthase
ENSG00000182040	Disease-causing germline mutation(s) in
ENSG00000182054	D-2-hydroxyglutarate dehydrogenase,Fibrillary astrocytoma,Gemistocytic astrocytoma,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,isocitrate dehydrogenase (NADP(+)) 2,parathyroid hormone 1 receptor,Protoplasmic astrocytoma,tet methylcytosine dioxygenase 2
ENSG00000182117	nucleophosmin 1
ENSG00000182150	CCAAT enhancer binding protein alpha,ERCC excision repair 6 like 2
ENSG00000182158	FUS RNA binding protein
ENSG00000182173	tRNA splicing endonuclease subunit 15,tRNA splicing endonuclease subunit 54
ENSG00000182180	mitochondrial ribosomal protein S16
ENSG00000182187	Early-onset anterior polar cataract,Early-onset lamellar cataract,Total early-onset cataract
ENSG00000182197	exostosin glycosyltransferase 1,exostosin glycosyltransferase 1,RAD21 cohesin complex component
ENSG00000182220	ATPase H+ transporting accessory protein 2,ATPase H+ transporting accessory protein 2
ENSG00000182287	adaptor related protein complex 1 subunit sigma 2,adaptor related protein complex 1 subunit sigma 2,adaptor related protein complex 1 subunit sigma 2
ENSG00000182326	complement C1s,complement C2
ENSG00000182372	CLN8 transmembrane ER and ERGIC protein,DnaJ heat shock protein family (Hsp40) member C5,major facilitator superfamily domain containing 8
ENSG00000182389	calcium voltage-gated channel auxiliary subunit beta 4,ciliogenesis associated kinase 1
ENSG00000182450	potassium two pore domain channel subfamily K member 4
ENSG00000182492	biglycan,biglycan
ENSG00000182512	glutaredoxin 5,glutaredoxin 5
ENSG00000182533	caveolin 3,caveolin 3,caveolin 3,filamin C,triadin
ENSG00000182568	zinc finger MIZ-type containing 1
ENSG00000182578	alanyl-tRNA synthetase 2, mitochondrial,colony stimulating factor 1 receptor
ENSG00000182606	actin like 6B
ENSG00000182621	neurotrophic receptor tyrosine kinase 2,sodium voltage-gated channel alpha subunit 2
ENSG00000182636	Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ENSG00000182774	ribosomal protein L18
ENSG00000182858	ALG12 alpha-1,6-mannosyltransferase
ENSG00000182866	LCK proto-oncogene, Src family tyrosine kinase
ENSG00000182871	p21 (RAC1) activated kinase 2
ENSG00000182872	RNA binding motif protein 10
ENSG00000182899	ribosomal protein L18
ENSG00000182923	Autosomal recessive primary microcephaly
ENSG00000182944	ETS transcription factor ERG,ETS transcription factor ERG,EWS RNA binding protein 1,trafficking from ER to golgi regulator,WT1 transcription factor
ENSG00000183010	golgin, RAB6 interacting,PYCR1-related De Barsy syndrome,pyrroline-5-carboxylate reductase 1
ENSG00000183044	4-aminobutyrate aminotransferase
ENSG00000183072	ATP binding cassette subfamily C member 9,Atrial septal defect, ostium secundum type,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,forkhead box E1,gap junction protein alpha 1,kinase insert domain receptor,NK2 homeobox 5,NK2 homeobox 5,NK2 homeobox 5,NK2 homeobox 5,NK2 homeobox 5,sodium voltage-gated channel beta subunit 1
ENSG00000183091	actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,nebulin,nebulin,tropomyosin 2,tropomyosin 3
ENSG00000183098	Autosomal recessive omodysplasia
ENSG00000183161	RAD51 recombinase
ENSG00000183196	carbohydrate sulfotransferase 6
ENSG00000183230	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ENSG00000183258	DEAD-box helicase 41
ENSG00000183287	collagen and calcium binding EGF domains 1
ENSG00000183337	BCL6 corepressor,BCL6 corepressor,BCL6 corepressor,PML nuclear body scaffold
ENSG00000183421	receptor interacting serine/threonine kinase 4,receptor interacting serine/threonine kinase 4
ENSG00000183423	rhodopsin
ENSG00000183454	gamma-aminobutyric acid type A receptor subunit gamma2,glutamate ionotropic receptor NMDA type subunit 2A,glutamate ionotropic receptor NMDA type subunit 2A,glutamate ionotropic receptor NMDA type subunit 2A,sushi repeat containing protein X-linked 2
ENSG00000183513	synthesis of cytochrome C oxidase 1
ENSG00000183542	interleukin 10
ENSG00000183579	tumor protein p53
ENSG00000183597	transport and golgi organization 2 homolog
ENSG00000183605	sideroflexin 4
ENSG00000183638	RP1 like 1,S-phase cyclin A associated protein in the ER
ENSG00000183691	Brachydactyly type B2,growth differentiation factor 5,growth differentiation factor 5,noggin,noggin
ENSG00000183733	inhibin subunit alpha
ENSG00000183735	cyclin F,unc-93 homolog B1, TLR signaling regulator,valosin containing protein
ENSG00000183763	DNA replication helicase/nuclease 2
ENSG00000183765	bone morphogenetic protein receptor type 1A,cadherin 1,checkpoint kinase 2,cyclin dependent kinase inhibitor 2A,phosphatase and tensin homolog
ENSG00000183770	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,forkhead box L2,forkhead box L2,inhibin subunit alpha
ENSG00000183785	tubulin alpha 8,tubulin alpha 8
ENSG00000183862	teneurin transmembrane protein 1
ENSG00000183873	ATP binding cassette subfamily C member 9,hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel alpha subunit 5,sodium voltage-gated channel alpha subunit 5,sodium voltage-gated channel alpha subunit 5,sodium voltage-gated channel beta subunit 1,TATA-box binding protein associated factor, RNA polymerase I subunit A,triadin
ENSG00000183876	arylsulfatase family member I
ENSG00000183918	SH2 domain containing 1A
ENSG00000183978	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000184009	actin beta,actin gamma 1,actin gamma 1,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000184047	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000184056	VPS33B late endosome and lysosome associated
ENSG00000184058	kinase insert domain receptor,T-box transcription factor 1,T-box transcription factor 1,T-box transcription factor 1
ENSG00000184144	sterile alpha motif domain containing 12
ENSG00000184154	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000184156	ciliogenesis associated kinase 1,potassium voltage-gated channel subfamily Q member 2,sodium voltage-gated channel alpha subunit 8
ENSG00000184216	PX domain containing serine/threonine kinase like,spermidine/spermine N1-acetyltransferase 1
ENSG00000184254	membrane frizzled-related protein,sonic hedgehog signaling molecule
ENSG00000184292	tumor associated calcium signal transducer 2
ENSG00000184302	membrane frizzled-related protein,SIX homeobox 6,sonic hedgehog signaling molecule
ENSG00000184304	Squamous cell carcinoma of salivary glands
ENSG00000184344	growth differentiation factor 3,sonic hedgehog signaling molecule
ENSG00000184374	collectin subfamily member 10
ENSG00000184381	phospholipase A2 group VI,phospholipase A2 group VI
ENSG00000184432	Autosomal recessive primary microcephaly
ENSG00000184470	steroidogenic acute regulatory protein,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000184500	protein C, inactivator of coagulation factors Va and VIIIa,protein S
ENSG00000184507	NUT midline carcinoma family member 1
ENSG00000184564	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SLIT and NTRK like family member 6
ENSG00000184584	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,stimulator of interferon response cGAMP interactor 1
ENSG00000184634	mediator complex subunit 12,mediator complex subunit 12,mediator complex subunit 12,mediator complex subunit 12,X-linked non-syndromic intellectual disability
ENSG00000184640	septin 9
ENSG00000184675	APC membrane recruitment protein 1
ENSG00000184708	inhibin subunit alpha
ENSG00000184743	atlastin GTPase 1
ENSG00000184895	DEAH-box helicase 37,DEAH-box helicase 37,sex determining region Y,SRY-box transcription factor 9,SRY-box transcription factor 9
ENSG00000184903	SLIT and NTRK like family member 1
ENSG00000184908	Bartter syndrome type 3,Bartter syndrome type 4,solute carrier family 12 member 3
ENSG00000184923	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
ENSG00000184937	brain derived neurotrophic factor,BRCA2 DNA repair associated,BRCA2 DNA repair associated,DEAH-box helicase 37,DEAH-box helicase 37,membrane associated guanylate kinase, WW and PDZ domain containing 2,WT1 transcription factor,WT1 transcription factor,WT1 transcription factor,WT1 transcription factor
ENSG00000184979	ubiquitin specific peptidase 18
ENSG00000184983	transmembrane protein 126B
ENSG00000185000	plasmalemma vesicle associated protein
ENSG00000185002	regulatory factor X6
ENSG00000185008	tenascin XB
ENSG00000185010	Bleeding disorder in hemophilia A carriers,Mild hemophilia A,Moderate hemophilia A,Severe hemophilia A
ENSG00000185024	BRF1 RNA polymerase III transcription initiation factor subunit
ENSG00000185043	transmembrane channel like 6
ENSG00000185049	phosphatidylinositol glycan anchor biosynthesis class G
ENSG00000185100	adenylosuccinate synthase 1
ENSG00000185129	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ENSG00000185231	steroidogenic acute regulatory protein
ENSG00000185245	glycoprotein Ib platelet subunit alpha,glycoprotein Ib platelet subunit alpha,glycoprotein Ib platelet subunit alpha,tubulin alpha 8
ENSG00000185261	GLI family zinc finger 1
ENSG00000185303	surfactant protein A1
ENSG00000185313	hyperpolarization activated cyclic nucleotide gated potassium channel 4,sodium voltage-gated channel alpha subunit 10,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9,sodium voltage-gated channel alpha subunit 9,triadin
ENSG00000185338	suppressor of cytokine signaling 1
ENSG00000185339	transcobalamin 2
ENSG00000185344	Autosomal recessive cutis laxa type 2, classic type,Wrinkly skin syndrome
ENSG00000185345	synaptojanin 1
ENSG00000185379	cadherin 1,phosphatase and tensin homolog
ENSG00000185467	karyopherin subunit alpha 7
ENSG00000185479	keratin 16
ENSG00000185482	SH3 and cysteine rich domain 3
ENSG00000185483	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000185499	MUC1-related autosomal dominant tubulointerstitial kidney disease
ENSG00000185507	interferon regulatory factor 7
ENSG00000185515	BRCA1/BRCA2-containing complex subunit 3
ENSG00000185527	S-phase cyclin A associated protein in the ER
ENSG00000185532	forkhead box E3
ENSG00000185551	Complete atrioventricular septal defect-tetralogy of Fallot,Complete atrioventricular septal defect with ventricular hypoplasia
ENSG00000185559	Genetic central precocious puberty in male,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,makorin ring finger protein 3,Temple syndrome due to maternal uniparental disomy of chromosome 14,Temple syndrome due to paternal 14q32.2 hypomethylation,Temple syndrome due to paternal 14q32.2 microdeletion
ENSG00000185624	Osteogenesis imperfecta type 1,prolyl 4-hydroxylase subunit beta
ENSG00000185630	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),Renal hypoplasia, bilateral
ENSG00000185651	PX domain containing serine/threonine kinase like
ENSG00000185722	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000185760	Autosomal dominant non-syndromic intellectual disability
ENSG00000185803	RFVT2-related riboflavin transporter deficiency
ENSG00000185808	Dmx like 2
ENSG00000185811	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),IKAROS family zinc finger 1,Stevens-Johnson syndrome
ENSG00000185813	phosphate cytidylyltransferase 2, ethanolamine
ENSG00000185825	ATP binding cassette subfamily D member 1,B cell receptor associated protein 31
ENSG00000185900	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannose kinase
ENSG00000185909	Classic Hodgkin lymphoma, nodular sclerosis type
ENSG00000185920	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,patched 1,patched 1,patched 1,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000185946	Isolated growth hormone deficiency type IA
ENSG00000185960	SHOX homeobox,SHOX homeobox,SHOX homeobox
ENSG00000185963	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
ENSG00000185974	rhodopsin,S-antigen visual arrestin
ENSG00000186010	eukaryotic translation initiation factor 1A X-linked
ENSG00000186073	codanin 1
ENSG00000186081	keratin 14,keratin 14,keratin 14,keratin 14,keratin 5,presenilin enhancer, gamma-secretase subunit
ENSG00000186104	cytochrome P450 family 27 subfamily B member 1
ENSG00000186111	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
ENSG00000186153	actin like 6B,DEAH-box helicase 37,WW domain containing oxidoreductase,WW domain containing oxidoreductase
ENSG00000186184	RNA polymerase I subunit B
ENSG00000186197	Autosomal dominant hypohidrotic ectodermal dysplasia,Autosomal recessive hypohidrotic ectodermal dysplasia,small ubiquitin like modifier 1
ENSG00000186297	actin like 6B
ENSG00000186326	regulator of G protein signaling 9 binding protein
ENSG00000186335	solute carrier family 6 member 20
ENSG00000186367	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000186395	keratin 1,keratin 1,keratin 10,keratin 10
ENSG00000186439	calsequestrin 2,triadin
ENSG00000186442	keratin 12
ENSG00000186472	piccolo presynaptic cytomatrix protein
ENSG00000186487	myelin transcription factor 1 like
ENSG00000186501	zinc finger MIZ-type containing 1
ENSG00000186510	Bartter syndrome type 4
ENSG00000186575	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor,NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ENSG00000186603	4-hydroxyphenylpyruvate dioxygenase like,4-hydroxyphenylpyruvate dioxygenase like,zinc finger MIZ-type containing 1
ENSG00000186642	phosphodiesterase 2A
ENSG00000186687	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000186716	ABL proto-oncogene 1, non-receptor tyrosine kinase,BCR activator of RhoGEF and GTPase,BCR activator of RhoGEF and GTPase,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ENSG00000186765	S-phase cyclin A associated protein in the ER
ENSG00000186790	forkhead box C1,forkhead box E3,forkhead box E3
ENSG00000186827	TNF receptor superfamily member 4
ENSG00000186832	keratin 1,keratin 16,transient receptor potential cation channel subfamily V member 3
ENSG00000186847	keratin 14,keratin 14,keratin 14,keratin 14,keratin 14,keratin 14,keratin 14
ENSG00000186862	Usher syndrome type 2
ENSG00000186868	Classic progressive supranuclear palsy syndrome,presenilin 1,Progressive supranuclear palsy-corticobasal syndrome,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,transmembrane protein 106B,transmembrane protein 106B
ENSG00000186895	fibroblast growth factor 3,fibroblast growth factor 3,fibroblast growth factor 3
ENSG00000187010	Rh blood group CcEe antigens
ENSG00000187017	Disease-causing germline mutation(s) in,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000187045	transmembrane serine protease 6
ENSG00000187049	centrosomal protein 290,family with sequence similarity 149 member B1,thioredoxin domain containing 15
ENSG00000187079	TEA domain transcription factor 1
ENSG00000187091	phospholipase C delta 1
ENSG00000187098	Clear cell papillary renal cell carcinoma,cyclin dependent kinase 4,melanocyte inducing transcription factor,melanocyte inducing transcription factor,MET proto-oncogene, receptor tyrosine kinase,SRY-box transcription factor 10,Waardenburg syndrome type 2
ENSG00000187140	NLR family pyrin domain containing 1
ENSG00000187191	Role in the phenotype of
ENSG00000187240	dynein cytoplasmic 2 heavy chain 1,intraflagellar transport 80,KIAA0753,TRAF3 interacting protein 1
ENSG00000187242	keratin 12
ENSG00000187266	erythropoietin receptor
ENSG00000187288	cell death inducing DFFA like effector c
ENSG00000187323	DCC netrin 1 receptor,dynein axonemal light chain 4,Kallmann syndrome
ENSG00000187391	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000187486	ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,ATP binding cassette subfamily C member 8,potassium inwardly rectifying channel subfamily J member 11,potassium inwardly rectifying channel subfamily J member 11,potassium inwardly rectifying channel subfamily J member 11,potassium inwardly rectifying channel subfamily J member 11,signal transducer and activator of transcription 3
ENSG00000187498	collagen type IV alpha 1 chain,collagen type IV alpha 1 chain,collagen type IV alpha 1 chain,collagen type IV alpha 1 chain,Familial porencephaly,Familial schizencephaly,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ENSG00000187535	glucosidase II alpha subunit,intraflagellar transport 140,KIAA0753,S-phase cyclin A associated protein in the ER,ubiquitin specific peptidase 45
ENSG00000187553	Focal facial dermal dysplasia type IV
ENSG00000187555	Hao-Fountain syndrome due to 16p13.2 microdeletion,Hao-Fountain syndrome due to USP7 mutation
ENSG00000187566	EPM2A glucan phosphatase, laforin
ENSG00000187605	zinc finger MIZ-type containing 1
ENSG00000187608	ISG15 ubiquitin like modifier
ENSG00000187616	myomixer, myoblast fusion factor
ENSG00000187676	beta 3-glucosyltransferase
ENSG00000187678	Kallmann syndrome,KIT ligand,Normosmic congenital hypogonadotropic hypogonadism
ENSG00000187689	Hypocalcified amelogenesis imperfecta
ENSG00000187714	Presynaptic congenital myasthenic syndromes,solute carrier family 18 member A3
ENSG00000187720	forkhead box E3
ENSG00000187726	dynein axonemal heavy chain 1
ENSG00000187730	arginine-glutamic acid dipeptide repeats,ciliogenesis associated kinase 1,hyperpolarization activated cyclic nucleotide gated potassium channel 1
ENSG00000187736	non-homologous end joining factor 1
ENSG00000187741	RAD51 recombinase
ENSG00000187742	SECIS binding protein 2
ENSG00000187764	semaphorin 4D
ENSG00000187772	MYCN proto-oncogene, bHLH transcription factor
ENSG00000187775	cilia and flagella associated protein 251
ENSG00000187790	RAD51 recombinase,sperm associated antigen 17
ENSG00000187796	caspase recruitment domain family member 9
ENSG00000187848	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000187955	collagen type XIV alpha 1 chain
ENSG00000188021	cyclin F
ENSG00000188026	notch 2 N-terminal like C
ENSG00000188037	chloride voltage-gated channel 1
ENSG00000188064	signaling receptor and transporter of retinol STRA6
ENSG00000188070	RELA proto-oncogene, NF-kB subunit,zinc finger translocation associated
ENSG00000188095	delta like canonical Notch ligand 3
ENSG00000188107	S-phase cyclin A associated protein in the ER
ENSG00000188120	Role in the phenotype of
ENSG00000188153	collagen type IV alpha 3 chain,Digenic Alport syndrome,X-linked Alport syndrome,X-linked Alport syndrome-diffuse leiomyomatosis
ENSG00000188157	Postsynaptic congenital myasthenic syndromes,Presynaptic congenital myasthenic syndromes
ENSG00000188158	Early-onset nuclear cataract,NHS actin remodeling regulator,Total early-onset cataract
ENSG00000188162	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000188191	protein kinase cAMP-dependent type I regulatory subunit beta
ENSG00000188199	BCL6 corepressor,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
ENSG00000188229	ubiquitin specific peptidase 45
ENSG00000188312	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000188338	actin like 6B
ENSG00000188343	GLI family zinc finger 1
ENSG00000188372	zona pellucida glycoprotein 2
ENSG00000188389	PX domain containing serine/threonine kinase like,TNF receptor superfamily member 1A
ENSG00000188419	CHM Rab escort protein
ENSG00000188428	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ENSG00000188452	S-phase cyclin A associated protein in the ER
ENSG00000188467	solute carrier family 24 member 5
ENSG00000188517	collagen type XXV alpha 1 chain,collagen type XXV alpha 1 chain,SCY1 like pseudokinase 2
ENSG00000188536	erythropoietin,Hb Bart's hydrops fetalis,Hemoglobin H disease,hemoglobin subunit alpha 2,hemoglobin subunit alpha 2
ENSG00000188603	major facilitator superfamily domain containing 8
ENSG00000188613	sperm associated antigen 17
ENSG00000188641	dihydropyrimidine dehydrogenase,dihydropyrimidine dehydrogenase
ENSG00000188672	Rh blood group CcEe antigens
ENSG00000188690	uroporphyrinogen III synthase
ENSG00000188706	mediator complex subunit 12
ENSG00000188738	cilia and flagella associated protein 251
ENSG00000188827	RAD51 recombinase
ENSG00000188906	synaptojanin 1,synuclein alpha
ENSG00000188910	gap junction protein alpha 1,gap junction protein beta 3,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000188937	rhodopsin
ENSG00000188992	lipase I
ENSG00000189056	Lissencephaly syndrome, Norman-Roberts type,reelin
ENSG00000189057	FAM111 trypsin like peptidase B
ENSG00000189067	lipopolysaccharide induced TNF factor
ENSG00000189079	AT-rich interaction domain 2
ENSG00000189114	Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ENSG00000189221	monoamine oxidase A
ENSG00000189241	TSPY like 1
ENSG00000189283	8-oxoguanine DNA glycosylase
ENSG00000189409	arginine-glutamic acid dipeptide repeats
ENSG00000189433	gap junction protein alpha 1
ENSG00000196091	myosin binding protein C1,phosphatidylinositol-4-phosphate 5-kinase type 1 gamma,sodium leak channel, non-selective
ENSG00000196092	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
ENSG00000196110	zinc finger MIZ-type containing 1
ENSG00000196126	BCL2 apoptosis regulator,butyrophilin like 2,Diffuse cutaneous systemic sclerosis,hypocretin neuropeptide precursor,hypocretin neuropeptide precursor,Limited cutaneous systemic sclerosis,Limited systemic sclerosis,major histocompatibility complex, class II, DQ beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1,protein tyrosine phosphatase non-receptor type 22,PX domain containing serine/threonine kinase like,TNF receptor superfamily member 1A
ENSG00000196155	pleckstrin homology and RhoGEF domain containing G4
ENSG00000196159	collagen and calcium binding EGF domains 1,dachsous cadherin-related 1
ENSG00000196177	acyl-CoA dehydrogenase short/branched chain
ENSG00000196189	bone morphogenetic protein receptor type 1A,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000196218	calcium voltage-gated channel subunit alpha1 S,Congenital multicore myopathy with external ophthalmoplegia,Moderate multiminicore disease with hand involvement,nebulin,ryanodine receptor 1,ryanodine receptor 1,ryanodine receptor 1,ryanodine receptor 1,ryanodine receptor 1,ryanodine receptor 1,titin
ENSG00000196220	Pilomyxoid astrocytoma
ENSG00000196230	microtubule associated protein RP/EB family member 2
ENSG00000196236	Late-onset nephronophthisis
ENSG00000196275	syntaxin 1A
ENSG00000196277	Autosomal recessive non-syndromic intellectual disability,Dmx like 2
ENSG00000196296	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ENSG00000196305	isoleucyl-tRNA synthetase 1
ENSG00000196338	neuroligin 3,RAB39B, member RAS oncogene family
ENSG00000196352	CD55 molecule (Cromer blood group)
ENSG00000196358	zinc finger MIZ-type containing 1
ENSG00000196365	lon peptidase 1, mitochondrial,lon peptidase 1, mitochondrial,Pyruvate dehydrogenase E1-alpha deficiency
ENSG00000196367	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000196411	EPH receptor B4,EPH receptor B4,EPH receptor B4,RAS p21 protein activator 1
ENSG00000196415	major histocompatibility complex, class II, DP alpha 1
ENSG00000196431	crystallin alpha A,Early-onset lamellar cataract
ENSG00000196449	O-sialoglycoprotein endopeptidase
ENSG00000196459	trafficking protein particle complex subunit 2
ENSG00000196468	fibroblast growth factor 16
ENSG00000196470	zinc finger MIZ-type containing 1
ENSG00000196511	thiamin pyrophosphokinase 1
ENSG00000196517	Atypical glycine encephalopathy,Infantile glycine encephalopathy
ENSG00000196549	membrane metalloendopeptidase,membrane metalloendopeptidase,membrane metalloendopeptidase,membrane metalloendopeptidase
ENSG00000196557	calcium voltage-gated channel subunit alpha1 H,gamma-aminobutyric acid type A receptor subunit alpha1
ENSG00000196565	hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit gamma 2
ENSG00000196569	laminin subunit alpha 2
ENSG00000196584	cadherin 1,RAD51 recombinase,sperm associated antigen 17
ENSG00000196586	myosin VI,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000196588	myocardin related transcription factor A,RNA binding motif protein 15
ENSG00000196611	collagen type VII alpha 1 chain
ENSG00000196628	Autosomal dominant non-syndromic intellectual disability,semaphorin 4D,solute carrier family 4 member 11,transcription factor 4,transcription factor 4
ENSG00000196655	zinc finger MIZ-type containing 1
ENSG00000196660	solute carrier family 30 member 10
ENSG00000196663	tectonin beta-propeller repeat containing 2
ENSG00000196664	PX domain containing serine/threonine kinase like
ENSG00000196712	17q11 microdeletion syndrome,Alveolar rhabdomyosarcoma,Embryonal rhabdomyosarcoma,mitogen-activated protein kinase kinase 2,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,neurofibromin 1,Pleomorphic rhabdomyosarcoma,RAS related,solute carrier family 25 member 11
ENSG00000196735	Adult-onset myasthenia gravis,cytokine receptor like factor 1,major histocompatibility complex, class II, DR beta 1,major histocompatibility complex, class II, DR beta 1
ENSG00000196739	collagen type XXVII alpha 1 chain
ENSG00000196743	ganglioside GM2 activator
ENSG00000196767	POU class 3 homeobox 4,Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000196811	cholinergic receptor nicotinic gamma subunit,nebulin
ENSG00000196839	adenosine deaminase,adenosine deaminase
ENSG00000196865	NHL repeat containing 2
ENSG00000196876	actin like 6B,Autosomal dominant non-syndromic intellectual disability,phosphodiesterase 2A,sodium voltage-gated channel alpha subunit 8
ENSG00000196878	collagen type XVII alpha 1 chain,Hypoplastic amelogenesis imperfecta,laminin subunit beta 3
ENSG00000196924	bromodomain and WD repeat domain containing 3,filamin A,filamin A,filamin A,filamin A,filamin A,filamin A,filamin A,filamin A,mitogen-activated protein kinase kinase kinase 7,Neuronal intestinal pseudoobstruction,Periventricular nodular heterotopia
ENSG00000196976	O-sialoglycoprotein endopeptidase
ENSG00000196998	neurotrophic receptor tyrosine kinase 2,WD repeat domain 45
ENSG00000197061	zinc finger MIZ-type containing 1
ENSG00000197102	Autosomal dominant non-syndromic intellectual disability,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,dynein cytoplasmic 1 heavy chain 1
ENSG00000197106	solute carrier family 6 member 17
ENSG00000197121	Autosomal recessive non-syndromic intellectual disability,post-GPI attachment to proteins inositol deacylase 1
ENSG00000197122	SRC proto-oncogene, non-receptor tyrosine kinase
ENSG00000197170	bromodomain PHD finger transcription factor,zinc finger MIZ-type containing 1
ENSG00000197249	serpin family A member 1,serpin family A member 1,serpin family A member 1
ENSG00000197256	KN motif and ankyrin repeat domains 2
ENSG00000197265	M-phase specific PLK1 interacting protein
ENSG00000197283	actin like 6B,Autosomal dominant non-syndromic intellectual disability,solute carrier family 2 member 1,synaptic Ras GTPase activating protein 1
ENSG00000197299	BLM RecQ like helicase
ENSG00000197323	eukaryotic translation initiation factor 1A X-linked
ENSG00000197375	solute carrier family 22 member 5
ENSG00000197386	huntingtin,huntingtin,zinc finger MIZ-type containing 1
ENSG00000197417	sedoheptulokinase
ENSG00000197467	Postsynaptic congenital myasthenic syndromes,Presynaptic congenital myasthenic syndromes
ENSG00000197496	solute carrier family 2 member 10
ENSG00000197530	pleckstrin homology and RUN domain containing M2
ENSG00000197535	Griscelli syndrome type 1,Griscelli syndrome type 3,myosin VA
ENSG00000197561	elastase, neutrophil expressed,T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000197563	phosphatidylinositol glycan anchor biosynthesis class N,phosphatidylinositol glycan anchor biosynthesis class N
ENSG00000197565	Rare X-linked non-syndromic sensorineural deafness type DFN,X-linked Alport syndrome-diffuse leiomyomatosis
ENSG00000197579	family with sequence similarity 149 member B1,S-phase cyclin A associated protein in the ER
ENSG00000197594	ATP binding cassette subfamily C member 6,ATP binding cassette subfamily C member 6,dentin matrix acidic phosphoprotein 1,ectonucleotide pyrophosphatase/phosphodiesterase 1
ENSG00000197601	aldehyde dehydrogenase 18 family member A1,fatty acyl-CoA reductase 1
ENSG00000197603	centrosomal protein 120,ciliogenesis and planar polarity effector complex subunit 1,family with sequence similarity 149 member B1
ENSG00000197614	forkhead box E3
ENSG00000197616	Atrial septal defect, ostium secundum type,filamin C,sodium voltage-gated channel alpha subunit 5,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000197653	Male infertility due to large-headed multiflagellar polyploid spermatozoa,sperm associated antigen 17
ENSG00000197694	neurotrophic receptor tyrosine kinase 2
ENSG00000197728	ribosomal protein L18
ENSG00000197746	Atypical Gaucher disease due to saposin C deficiency,Infantile Krabbe disease,Metachromatic leukodystrophy, adult form,Metachromatic leukodystrophy, juvenile form,Metachromatic leukodystrophy, late infantile form,prosaposin
ENSG00000197748	cilia and flagella associated protein 251
ENSG00000197753	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000197766	complement factor D
ENSG00000197779	X-linked non-syndromic intellectual disability
ENSG00000197780	Autosomal recessive primary microcephaly
ENSG00000197785	ATPase family AAA domain containing 3A
ENSG00000197822	occludin
ENSG00000197858	glycosylphosphatidylinositol anchor attachment 1
ENSG00000197859	ADAM metallopeptidase with thrombospondin type 1 motif 2,fibrillin 1
ENSG00000197879	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000197891	solute carrier family 22 member 12
ENSG00000197912	SPG7 matrix AAA peptidase subunit, paraplegin,SPG7 matrix AAA peptidase subunit, paraplegin
ENSG00000197943	phospholipase C gamma 2,phospholipase C gamma 2
ENSG00000197969	vacuolar protein sorting 13 homolog A
ENSG00000198001	interleukin 1 receptor associated kinase 4
ENSG00000198003	dynein axonemal heavy chain 1
ENSG00000198026	zinc finger protein 335
ENSG00000198087	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000198130	3-hydroxyisobutyryl-CoA hydrolase
ENSG00000198171	DDRGK domain containing 1
ENSG00000198198	actin like 6B
ENSG00000198218	glutamine rich 1
ENSG00000198223	colony stimulating factor 2 receptor subunit beta
ENSG00000198246	solute carrier family 29 member 3,TNF receptor superfamily member 11a
ENSG00000198286	caspase recruitment domain family member 11,caspase recruitment domain family member 11,caspase recruitment domain family member 11,caspase recruitment domain family member 11
ENSG00000198331	centrosomal protein 120,HYLS1 centriolar and ciliogenesis associated
ENSG00000198336	ATP binding cassette subfamily C member 9
ENSG00000198363	aspartate beta-hydroxylase
ENSG00000198369	RAS related
ENSG00000198380	Congenital myasthenic syndromes with glycosylation defect
ENSG00000198400	estrogen receptor 2,eukaryotic translation initiation factor 1A X-linked,neurotrophic receptor tyrosine kinase 1,neurotrophic receptor tyrosine kinase 1
ENSG00000198467	actin alpha 1, skeletal muscle,mitogen-activated protein kinase kinase kinase 20,myopalladin,sodium leak channel, non-selective,sodium leak channel, non-selective,tropomyosin 2
ENSG00000198513	atlastin GTPase 1,atlastin GTPase 1
ENSG00000198515	S-phase cyclin A associated protein in the ER
ENSG00000198523	filamin C,TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000198561	catenin delta 1
ENSG00000198569	solute carrier family 34 member 3
ENSG00000198570	ubiquitin specific peptidase 45
ENSG00000198589	LPS responsive beige-like anchor protein
ENSG00000198610	aldo-keto reductase family 1 member C2
ENSG00000198626	calsequestrin 2,Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant,Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant,Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ENSG00000198642	kelch like family member 9
ENSG00000198650	tyrosine aminotransferase
ENSG00000198668	calsequestrin 2,triadin
ENSG00000198677	SKI3 subunit of superkiller complex
ENSG00000198682	3'-phosphoadenosine 5'-phosphosulfate synthase 2,3'-phosphoadenosine 5'-phosphosulfate synthase 2
ENSG00000198689	solute carrier family 9 member A6
ENSG00000198690	FANCD2 and FANCI associated nuclease 1,mutS homolog 6
ENSG00000198691	ATP binding cassette subfamily A member 4,cyclic nucleotide gated channel subunit beta 3,retinitis pigmentosa GTPase regulator,S-phase cyclin A associated protein in the ER
ENSG00000198695	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,mitochondrially encoded tRNA-Gln (CAA/G),NADH:ubiquinone oxidoreductase core subunit S2
ENSG00000198707	Bardet-Biedl syndrome 1,centrosomal protein 290,centrosomal protein 290,thioredoxin domain containing 15,ubiquitin specific peptidase 45
ENSG00000198712	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,mitochondrially encoded tRNA-Gln (CAA/G)
ENSG00000198718	centrosomal protein 120
ENSG00000198719	Alobar holoprosencephaly,Autosomal dominant non-syndromic intellectual disability,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000198727	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone,mitochondrially encoded cytochrome b,NADH:ubiquinone oxidoreductase core subunit S2
ENSG00000198732	SPARC related modular calcium binding 1
ENSG00000198734	coagulation factor II, thrombin,coagulation factor V,coagulation factor V,East Texas bleeding disorder,protein C, inactivator of coagulation factors Va and VIIIa
ENSG00000198758	EPS8 like 3
ENSG00000198763	mitochondrially encoded ATP synthase membrane subunit 6,NADH:ubiquinone oxidoreductase core subunit S2,transmembrane protein 126B
ENSG00000198786	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Pro (CCN),NADH:ubiquinone oxidoreductase core subunit S2
ENSG00000198793	Isolated focal cortical dysplasia type IIa,Isolated focal cortical dysplasia type IIb,mechanistic target of rapamycin kinase,phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ENSG00000198799	heparanase 2 (inactive)
ENSG00000198804	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,mitochondrially encoded cytochrome c oxidase I,mitochondrially encoded tRNA-Gln (CAA/G),NADH:ubiquinone oxidoreductase core subunit S2,Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000198805	purine nucleoside phosphorylase
ENSG00000198807	fibroblast growth factor receptor 1,small ubiquitin like modifier 1
ENSG00000198814	Glycerol kinase deficiency, adult form,Glycerol kinase deficiency, juvenile form
ENSG00000198821	CD3 delta subunit of T-cell receptor complex,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase non-receptor type 22
ENSG00000198824	Autosomal dominant non-syndromic intellectual disability
ENSG00000198835	angiopoietin 2,gap junction protein gamma 2,Pelizaeus-Merzbacher-like disease due to GJC2 mutation
ENSG00000198836	OPA1 mitochondrial dynamin like GTPase,OPA1 mitochondrial dynamin like GTPase
ENSG00000198840	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,transmembrane protein 126B
ENSG00000198851	CD3 delta subunit of T-cell receptor complex
ENSG00000198860	tRNA splicing endonuclease subunit 15
ENSG00000198886	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,mitochondrially encoded tRNA-Gln (CAA/G),NADH:ubiquinone oxidoreductase core subunit S2,Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000198888	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded tRNA-Gln (CAA/G),NADH:ubiquinone oxidoreductase core subunit S2,transmembrane protein 126B
ENSG00000198899	filamin C,mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 6,NADH:ubiquinone oxidoreductase core subunit S2,nucleoporin 54
ENSG00000198910	Hydrocephalus with stenosis of the aqueduct of Sylvius,MASA syndrome,X-linked complicated corpus callosum dysgenesis,X-linked complicated spastic paraplegia type 1
ENSG00000198920	centrosomal protein 120,family with sequence similarity 149 member B1,KIAA0753
ENSG00000198929	triadin
ENSG00000198931	adenine phosphoribosyltransferase
ENSG00000198938	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,mitochondrially encoded cytochrome c oxidase I,mitochondrially encoded tRNA-Gln (CAA/G),NADH:ubiquinone oxidoreductase core subunit S2
ENSG00000198947	dystrophin,dystrophin,dystrophin,TATA-box binding protein associated factor, RNA polymerase I subunit A,X-linked non-syndromic intellectual disability
ENSG00000198951	Alpha-N-acetylgalactosaminidase deficiency type 1,Alpha-N-acetylgalactosaminidase deficiency type 2,Alpha-N-acetylgalactosaminidase deficiency type 3
ENSG00000198954	kinesin family binding protein
ENSG00000199158	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000200463	small nucleolar RNA, C/D box 118
ENSG00000203485	inverted formin, FH2 and WH2 domain containing,membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000203618	glycoprotein Ib platelet subunit alpha,glycoprotein Ib platelet subunit alpha,T-box transcription factor 1,tubulin alpha 8
ENSG00000203667	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000203747	Fc fragment of IgG receptor IIIa
ENSG00000203782	loricrin cornified envelope precursor protein,transient receptor potential cation channel subfamily M member 4
ENSG00000203859	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ENSG00000203867	TATA-box binding protein associated factor, RNA polymerase I subunit A
ENSG00000203877	delta like canonical Notch ligand 3
ENSG00000203879	X-linked non-syndromic intellectual disability
ENSG00000203883	SRY-box transcription factor 18
ENSG00000203908	Complete hydatidiform mole,Partial hydatidiform mole
ENSG00000204020	sulfotransferase family 2B member 1
ENSG00000204103	chimerin 1,MAF bZIP transcription factor B,MAF bZIP transcription factor B
ENSG00000204104	centrosomal protein 290,TRAF3 interacting protein 1
ENSG00000204120	synuclein alpha
ENSG00000204209	ATRX chromatin remodeler
ENSG00000204217	bone morphogenetic protein receptor type 2,Drug- or toxin-induced pulmonary arterial hypertension,Heritable pulmonary arterial hypertension
ENSG00000204248	collagen type II alpha 1 chain,collagen type XI alpha 1 chain,collagen type XI alpha 2 chain,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000204262	collagen type V alpha 2 chain
ENSG00000204264	proteasome 20S subunit beta 8
ENSG00000204267	transporter 2, ATP binding cassette subfamily B member
ENSG00000204287	major histocompatibility complex, class II, DR alpha
ENSG00000204290	butyrophilin like 2
ENSG00000204311	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000204351	SKI3 subunit of superkiller complex
ENSG00000204370	phosphatase and tensin homolog,solute carrier family 25 member 11,succinate dehydrogenase complex flavoprotein subunit A,succinate dehydrogenase complex iron sulfur subunit B,succinate dehydrogenase complex subunit D,succinate dehydrogenase complex subunit D
ENSG00000204385	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ENSG00000204386	Congenital sialidosis type 2,Juvenile sialidosis type 2,neuraminidase 1
ENSG00000204394	valyl-tRNA synthetase 1
ENSG00000204406	Autosomal dominant non-syndromic intellectual disability,methyl-CpG binding domain protein 5
ENSG00000204410	inhibin subunit alpha,sperm associated antigen 17
ENSG00000204427	abhydrolase domain containing 16A, phospholipase
ENSG00000204435	Autosomal dominant non-syndromic intellectual disability
ENSG00000204525	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ENSG00000204539	keratin 74,Peeling skin syndrome type B
ENSG00000204644	ATP binding cassette subfamily C member 8
ENSG00000204655	hypocretin neuropeptide precursor
ENSG00000204681	Autosomal dominant non-syndromic intellectual disability
ENSG00000204713	eukaryotic translation initiation factor 1A X-linked
ENSG00000204815	dynein axonemal heavy chain 1
ENSG00000204842	ataxin 2,cyclin F
ENSG00000204843	cyclin F,dynactin subunit 1,dynactin subunit 1
ENSG00000204852	centrosomal protein 120,thioredoxin domain containing 15
ENSG00000204897	lysophosphatidic acid receptor 6
ENSG00000204922	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ENSG00000204928	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000204983	calcium sensing receptor,chymotrypsin C
ENSG00000205084	centrosomal protein 290,thioredoxin domain containing 15,transmembrane protein 231
ENSG00000205090	transmembrane protein 240
ENSG00000205138	succinate dehydrogenase complex flavoprotein subunit A
ENSG00000205155	presenilin 1,presenilin enhancer, gamma-secretase subunit
ENSG00000205336	Bilateral frontoparietal polymicrogyria,Bilateral perisylvian polymicrogyria
ENSG00000205403	ATP binding cassette subfamily A member 4,Atypical hemolytic uremic syndrome with complement gene abnormality,CD46 molecule,complement factor I,complement factor I,complement factor I
ENSG00000205413	Familial normophosphatemic tumoral calcinosis,sterile alpha motif domain containing 9
ENSG00000205420	keratin 16
ENSG00000205426	keratin 86
ENSG00000205571	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3,Proximal spinal muscular atrophy type 4
ENSG00000205678	calsequestrin 2
ENSG00000205726	Autosomal dominant non-syndromic intellectual disability
ENSG00000205899	basic helix-loop-helix family member a9,basic helix-loop-helix family member a9,basic helix-loop-helix family member a9
ENSG00000205916	Role in the phenotype of
ENSG00000205944	Role in the phenotype of
ENSG00000205981	DnaJ heat shock protein family (Hsp40) member C19
ENSG00000206013	Osteogenesis imperfecta type 5
ENSG00000206172	erythropoietin,Hb Bart's hydrops fetalis,Hemoglobin H disease,hemoglobin subunit alpha 2,hemoglobin subunit alpha 2
ENSG00000206190	Angelman syndrome due to imprinting defect in 15q11-q13
ENSG00000206503	major histocompatibility complex, class I, A
ENSG00000206530	cilia and flagella associated protein 251
ENSG00000206557	Congenital communicating hydrocephalus
ENSG00000206561	Synaptic congenital myasthenic syndromes
ENSG00000207695	microRNA 184
ENSG00000207935	microRNA 204
ENSG00000208017	microRNA 140
ENSG00000209082	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 8,mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Leu (UUA/G) 1,mitochondrially encoded tRNA-Pro (CCN),mitochondrially encoded tRNA-Ser (UCN) 1
ENSG00000210049	mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Phe (UUU/C),mitochondrially encoded tRNA-Pro (CCN)
ENSG00000210077	mitochondrially encoded ATP synthase membrane subunit 6
ENSG00000210082	filamin C
ENSG00000210100	filamin C,mitochondrially encoded tRNA-Phe (UUU/C)
ENSG00000210107	mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Pro (CCN)
ENSG00000210117	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded tRNA-Gln (CAA/G)
ENSG00000210135	mitochondrially encoded tRNA-Ser (UCN) 1
ENSG00000210151	gap junction protein beta 2,mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Pro (CCN),mitochondrially encoded tRNA-Ser (UCN) 1,Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000210156	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded tRNA-Lys (AAA/G),mitochondrially encoded tRNA-Pro (CCN)
ENSG00000210164	filamin C
ENSG00000210176	filamin C,mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Pro (CCN),Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000210184	mitochondrially encoded tRNA-Gln (CAA/G),mitochondrially encoded tRNA-Pro (CCN),Usher syndrome type 3
ENSG00000210191	mitochondrially encoded tRNA-Ser (UCN) 1
ENSG00000210194	mitochondrially encoded tRNA-Glu (GAA/G),tRNA mitochondrial 2-thiouridylase
ENSG00000210195	mitochondrially encoded tRNA-Thr (ACN)
ENSG00000210196	mitochondrially encoded tRNA-Pro (CCN)
ENSG00000211459	mitochondrially encoded tRNA-Pro (CCN),Rare mitochondrial non-syndromic sensorineural deafness
ENSG00000211592	immunoglobulin heavy constant gamma 2 (G2m marker)
ENSG00000211893	immunoglobulin heavy constant gamma 2 (G2m marker)
ENSG00000211896	purinergic receptor P2X 7,PX domain containing serine/threonine kinase like
ENSG00000211899	Autosomal agammaglobulinemia
ENSG00000211947	purinergic receptor P2X 7
ENSG00000211956	immunoglobulin heavy variable 4-34
ENSG00000212907	NADH:ubiquinone oxidoreductase core subunit S2
ENSG00000213024	nucleoporin 54
ENSG00000213139	Early-onset lamellar cataract,Early-onset sutural cataract
ENSG00000213281	B-Raf proto-oncogene, serine/threonine kinase,B-Raf proto-oncogene, serine/threonine kinase,eukaryotic translation initiation factor 1A X-linked,HRas proto-oncogene, GTPase,KRAS proto-oncogene, GTPase,mitogen-activated protein kinase kinase 1,RAS related,RAS related
ENSG00000213341	component of inhibitor of nuclear factor kappa B kinase complex
ENSG00000213380	component of oligomeric golgi complex 8
ENSG00000213398	Familial LCAT deficiency,Fish-eye disease
ENSG00000213614	Tay-Sachs disease, adult form,Tay-Sachs disease, infantile form,Tay-Sachs disease, juvenile form
ENSG00000213619	transmembrane protein 126B
ENSG00000213638	adenosine deaminase tRNA specific 3
ENSG00000213639	protein phosphatase 1 catalytic subunit beta
ENSG00000213658	linker for activation of T cells
ENSG00000213689	LSM11, U7 small nuclear RNA associated,PX domain containing serine/threonine kinase like,SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,three prime repair exonuclease 1
ENSG00000213741	ribosomal protein L18
ENSG00000213853	membrane associated guanylate kinase, WW and PDZ domain containing 2
ENSG00000213892	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000213918	complement C1q A chain,PX domain containing serine/threonine kinase like
ENSG00000213930	galactose-1-phosphate uridylyltransferase
ENSG00000213934	hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta
ENSG00000213995	NAD(P)HX dehydratase
ENSG00000214102	WEE2 oocyte meiosis inhibiting kinase
ENSG00000214113	LYR motif containing 4
ENSG00000214140	S-phase cyclin A associated protein in the ER
ENSG00000214160	ALG3 alpha-1,3- mannosyltransferase
ENSG00000214274	cyclin F
ENSG00000214413	Bardet-Biedl syndrome 1
ENSG00000214548	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,Temple syndrome due to maternal uniparental disomy of chromosome 14,Temple syndrome due to paternal 14q32.2 hypomethylation,Temple syndrome due to paternal 14q32.2 microdeletion
ENSG00000214941	nuclear receptor subfamily 5 group A member 1
ENSG00000214960	CDP-L-ribitol pyrophosphorylase A,CDP-L-ribitol pyrophosphorylase A,protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-),protein O-mannosyltransferase 1
ENSG00000215193	peroxisomal biogenesis factor 11 beta,peroxisomal biogenesis factor 2,peroxisomal biogenesis factor 2
ENSG00000215203	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000215301	ABL proto-oncogene 1, non-receptor tyrosine kinase,DEAD-box helicase 3 X-linked,DEAD-box helicase 3 X-linked
ENSG00000215417	Feingold syndrome type 2
ENSG00000215612	H6 family homeobox 1
ENSG00000215644	glucagon receptor
ENSG00000217930	presequence translocase associated motor 16
ENSG00000218336	sonic hedgehog signaling molecule
ENSG00000221819	eukaryotic translation initiation factor 1A X-linked
ENSG00000221829	RAD51 recombinase
ENSG00000221838	adaptor related protein complex 4 subunit mu 1
ENSG00000223609	hemoglobin subunit beta,hemoglobin subunit beta
ENSG00000223802	ceramide synthase 1
ENSG00000223865	major histocompatibility complex, class II, DP alpha 1,major histocompatibility complex, class II, DP beta 1
ENSG00000223953	C1q and TNF related 5
ENSG00000224389	complement C2,PX domain containing serine/threonine kinase like
ENSG00000224877	transmembrane protein 126B
ENSG00000225190	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
ENSG00000225614	zinc finger protein 469
ENSG00000225830	Cockayne syndrome type 1,Cockayne syndrome type 2,Cockayne syndrome type 3,COFS syndrome,ERCC excision repair 6, chromatin remodeling factor,inhibin subunit alpha
ENSG00000225950	cytochrome P450 family 1 subfamily B member 1
ENSG00000227268	cadherin 1,phosphatase and tensin homolog
ENSG00000228253	mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 6,mitochondrially encoded ATP synthase membrane subunit 8
ENSG00000228570	BCL6 corepressor
ENSG00000228716	dihydrofolate reductase
ENSG00000229474	WEE2 oocyte meiosis inhibiting kinase
ENSG00000230223	ataxin 8
ENSG00000231389	major histocompatibility complex, class II, DP alpha 1
ENSG00000231672	8-oxoguanine DNA glycosylase,eukaryotic translation initiation factor 1A X-linked
ENSG00000231852	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form,cytochrome P450 family 21 subfamily A member 2
ENSG00000231925	transporter 2, ATP binding cassette subfamily B member
ENSG00000232810	tumor necrosis factor
ENSG00000232838	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
ENSG00000233608	Focal facial dermal dysplasia type III,twist family bHLH transcription factor 2,twist family bHLH transcription factor 2
ENSG00000233927	ribosomal protein L18
ENSG00000234414	Role in the phenotype of
ENSG00000234438	tropomyosin 2
ENSG00000234602	dynein axonemal heavy chain 1
ENSG00000234616	ciliogenesis associated kinase 1,gamma-aminobutyric acid type A receptor subunit alpha1
ENSG00000234745	interleukin 10,major histocompatibility complex, class I, B,major histocompatibility complex, class I, B,major histocompatibility complex, class I, B,major histocompatibility complex, class I, B,protein tyrosine phosphatase non-receptor type 22,Pulmonary arterial hypertension associated with connective tissue disease,Stevens-Johnson syndrome
ENSG00000234906	Familial apolipoprotein C-II deficiency
ENSG00000235718	membrane frizzled-related protein,membrane frizzled-related protein
ENSG00000236320	schlafen family member 14
ENSG00000236699	Rho GTPase activating protein 29
ENSG00000237412	membrane frizzled-related protein
ENSG00000237693	interleukin 6
ENSG00000238923	LSM11, U7 small nuclear RNA associated
ENSG00000239474	actin alpha 1, skeletal muscle,actin alpha 1, skeletal muscle,tropomyosin 2,tropomyosin 3
ENSG00000239697	CD19 molecule,CD19 molecule
ENSG00000239900	adenylosuccinate lyase
ENSG00000240505	CD19 molecule,TNF receptor superfamily member 13B
ENSG00000240972	major histocompatibility complex, class II, DR beta 1,serpin family A member 1
ENSG00000241186	Alobar holoprosencephaly,fibroblast growth factor receptor 1,Lobar holoprosencephaly,Midline interhemispheric variant of holoprosencephaly,Semilobar holoprosencephaly,Septopreoptic holoprosencephaly
ENSG00000241476	SS18 subunit of BAF chromatin remodeling complex
ENSG00000241635	Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome type 2,UDP glucuronosyltransferase family 1 member A1,UDP glucuronosyltransferase family 1 member A1
ENSG00000241878	phosphatidylserine decarboxylase
ENSG00000241935	Primary hyperoxaluria type 3
ENSG00000241973	Bilateral perisylvian polymicrogyria,phosphatidylinositol 4-kinase alpha,tetratricopeptide repeat domain 7A
ENSG00000242110	alpha-methylacyl-CoA racemase
ENSG00000242419	zinc finger MIZ-type containing 1
ENSG00000242802	adaptor related protein complex 5 subunit zeta 1
ENSG00000242866	cation channel sperm associated 2,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000243335	Progressive myoclonic epilepsy type 3
ENSG00000243646	interleukin 10
ENSG00000243649	ATP binding cassette subfamily A member 4,Atypical hemolytic uremic syndrome with complement gene abnormality
ENSG00000243989	aminoacylase 1
ENSG00000244005	LYR motif containing 4
ENSG00000244038	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
ENSG00000244040	interleukin 10
ENSG00000244045	transmembrane protein 199
ENSG00000244165	hypocretin neuropeptide precursor
ENSG00000244414	Atypical hemolytic uremic syndrome with anti-factor H antibodies,C3 glomerulonephritis,Dense deposit disease
ENSG00000244486	scavenger receptor class F member 2
ENSG00000244617	sulfotransferase family 2B member 1
ENSG00000244682	Fc gamma receptor IIc (gene/pseudogene)
ENSG00000244731	complement C1q A chain,complement C2,interleukin 10,PX domain containing serine/threonine kinase like
ENSG00000244734	Beta-thalassemia intermedia,Beta-thalassemia major,Dominant beta-thalassemia,erythropoietin,hemoglobin subunit alpha 2,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta,hemoglobin subunit beta
ENSG00000244752	Cerulean cataract,crystallin alpha A,Early-onset nuclear cataract,Early-onset posterior subcapsular cataract,Early-onset sutural cataract,Pulverulent cataract,Total early-onset cataract
ENSG00000245848	CCAAT enhancer binding protein alpha,CCAAT enhancer binding protein alpha,RUNX family transcription factor 1
ENSG00000247626	methionyl-tRNA synthetase 2, mitochondrial,methionyl-tRNA synthetase 2, mitochondrial
ENSG00000248098	Classic maple syrup urine disease,Intermediate maple syrup urine disease,Intermittent maple syrup urine disease,Thiamine-responsive maple syrup urine disease
ENSG00000249437	Proximal spinal muscular atrophy type 1,Proximal spinal muscular atrophy type 2,Proximal spinal muscular atrophy type 3
ENSG00000249961	sperm associated antigen 17
ENSG00000250479	coiled-coil-helix-coiled-coil-helix domain containing 10,coiled-coil-helix-coiled-coil-helix domain containing 10,cyclin F,valosin containing protein
ENSG00000251322	RAB39B, member RAS oncogene family,SH3 and multiple ankyrin repeat domains 3
ENSG00000253710	ALG11 alpha-1,2-mannosyltransferase
ENSG00000253729	protein kinase, DNA-activated, catalytic subunit
ENSG00000254585	MAGE family member L2,Prader-Willi syndrome due to imprinting mutation,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ENSG00000254636	ATP binding cassette subfamily A member 4
ENSG00000254647	ATP binding cassette subfamily C member 8,signal transducer and activator of transcription 3
ENSG00000254656	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,Temple syndrome due to maternal uniparental disomy of chromosome 14,Temple syndrome due to paternal 14q32.2 hypomethylation,Temple syndrome due to paternal 14q32.2 microdeletion
ENSG00000255072	phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000255974	cytochrome P450 family 2 subfamily A member 6
ENSG00000256053	cytochrome c oxidase assembly factor 8
ENSG00000256061	dynein axonemal heavy chain 1
ENSG00000256269	hydroxymethylbilane synthase
ENSG00000256525	DNA polymerase gamma, catalytic subunit
ENSG00000257923	Autosomal dominant non-syndromic intellectual disability
ENSG00000258366	dyskerin pseudouridine synthase 1,nucleophosmin 1,surfactant protein A1
ENSG00000258839	B-Raf proto-oncogene, serine/threonine kinase,cyclin dependent kinase 4,OCA2 melanosomal transmembrane protein
ENSG00000258947	collagen type XXV alpha 1 chain,tubulin alpha 1a,tubulin beta 3 class III
ENSG00000258992	Role in the phenotype of
ENSG00000259207	glycoprotein Ib platelet subunit alpha,integrin subunit alpha 2b,tubulin alpha 8
ENSG00000259384	Isolated growth hormone deficiency type IA,Isolated growth hormone deficiency type IB,Isolated growth hormone deficiency type II,Short stature due to growth hormone qualitative anomaly
ENSG00000260230	Autosomal recessive non-syndromic intellectual disability,glutamate ionotropic receptor NMDA type subunit 2A
ENSG00000260458	calcium voltage-gated channel subunit alpha1 S
ENSG00000260596	DNA methyltransferase 3 beta
ENSG00000261456	WEE2 oocyte meiosis inhibiting kinase
ENSG00000261609	gigaxonin
ENSG00000262179	myomixer, myoblast fusion factor
ENSG00000262919	cyclin Q
ENSG00000263001	syntaxin 1A
ENSG00000263639	cadherin 1
ENSG00000263761	activin A receptor like type 1
ENSG00000264229	RNA, U4atac small nuclear (U12-dependent splicing),RNA, U4atac small nuclear (U12-dependent splicing),RNA, U4atac small nuclear (U12-dependent splicing)
ENSG00000265107	ATP binding cassette subfamily C member 9,kinase insert domain receptor
ENSG00000265203	S-phase cyclin A associated protein in the ER
ENSG00000265241	RNA binding motif protein 8A
ENSG00000266173	STE20 related adaptor alpha
ENSG00000266412	eukaryotic translation initiation factor 1A X-linked
ENSG00000267534	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ENSG00000268104	serpin family A member 1
ENSG00000268221	opsin 1, medium wave sensitive,opsin 1, medium wave sensitive,opsin 1, medium wave sensitive,retinitis pigmentosa GTPase regulator
ENSG00000269058	filamin C
ENSG00000269335	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
ENSG00000269404	interleukin 12 receptor subunit beta 1
ENSG00000269556	transmembrane protein 185A
ENSG00000269821	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,insulin like growth factor 2
ENSG00000270141	nucleophosmin 1,perforin 1,surfactant protein A1
ENSG00000270647	cyclin F,trafficking from ER to golgi regulator
ENSG00000270765	dynein axonemal heavy chain 1
ENSG00000272047	M-phase specific PLK1 interacting protein
ENSG00000272333	lysine methyltransferase 2B,zinc finger MIZ-type containing 1
ENSG00000272398	TNF receptor superfamily member 1A
ENSG00000273079	Autosomal dominant non-syndromic intellectual disability,glutamate ionotropic receptor NMDA type subunit 2B,neurotrophic receptor tyrosine kinase 2
ENSG00000273540	solute carrier family 4 member 11
ENSG00000273611	kinesin family member 1A
ENSG00000273706	HNF1 homeobox B
ENSG00000273820	X-linked non-syndromic intellectual disability
ENSG00000274286	sterile alpha motif domain containing 12
ENSG00000275410	Bilateral multicystic dysplastic kidney,cadherin 1,HNF1B-related autosomal dominant tubulointerstitial kidney disease,HNF1 homeobox B,HNF1 homeobox B,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Renal dysplasia, bilateral,Renal dysplasia, unilateral,Unilateral multicystic dysplastic kidney
ENSG00000275896	calcium sensing receptor
ENSG00000276027	RNA, U12 small nuclear,RNA, U12 small nuclear
ENSG00000276045	Combined immunodeficiency due to ORAI1 deficiency,ORAI calcium release-activated calcium modulator 1,ORAI calcium release-activated calcium modulator 1
ENSG00000276180	zinc finger MIZ-type containing 1
ENSG00000276966	zinc finger MIZ-type containing 1
ENSG00000277027	adenosine deaminase,RNA component of mitochondrial RNA processing endoribonuclease,RNA component of mitochondrial RNA processing endoribonuclease
ENSG00000277161	phosphatidylinositol glycan anchor biosynthesis class M,phosphatidylinositol glycan anchor biosynthesis class V
ENSG00000277399	rhodopsin
ENSG00000277494	Familial GPIHBP1 deficiency
ENSG00000277586	neurofilament light chain,neurofilament light chain,neurofilament light chain
ENSG00000277734	T-cell receptor alpha constant
ENSG00000277893	cadherin 1,steroid 5 alpha-reductase 2
ENSG00000278570	nuclear receptor subfamily 2 group E member 3,S-phase cyclin A associated protein in the ER
ENSG00000279903	SLC7A2 intronic transcript 1
ENSG00000280757	DNA methyltransferase 3 beta
ENSG00000281344	CD46 molecule
ENSG00000283122	ATP binding cassette subfamily C member 8,hydatidiform mole associated and imprinted
ENSG00000284194	synthesis of cytochrome C oxidase 1,synthesis of cytochrome C oxidase 2,synthesis of cytochrome C oxidase 2
ENSG00000284395	epithelial cell adhesion molecule
ENSG00000284770	Autosomal recessive Kenny-Caffey syndrome,tubulin folding cofactor E,tubulin folding cofactor E
ENSG00000284862	dynein axonemal heavy chain 1
ENSG00000286219,notch 2 N-terminal like C,notch 2 N-terminal like C