Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABHD5 gene ABHD5 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;100 5.73 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABR gene ABR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000159842 ENSG00000159842 HGNC:81 ACAN gene ACAN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000157766 ENSG00000157766 HGNC:319 ACTB gene ACTB Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310;Dystonia, juvenile onset, 607371 False 1 0;0;100 5.73 False ENSG00000075624 ENSG00000075624 HGNC:132 ADCY1 gene ADCY1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology ?Deafness, autosomal recessive 44, 610154 False 1 0;0;0 5.73 False ENSG00000164742 ENSG00000164742 HGNC:232 ALDH1A2 gene ALDH1A2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000128918 ENSG00000128918 HGNC:15472 AP3D1 gene AP3D1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000065000 ENSG00000065000 HGNC:568 APAF1 gene APAF1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000120868 ENSG00000120868 HGNC:576 APOPT1 gene APOPT1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 25175347 False 1 0;0;0 5.73 False ENSG00000256053 ENSG00000256053 HGNC:20492 AQP4 gene AQP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000171885 ENSG00000171885 HGNC:637 ARSB gene ARSB Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000113273 ENSG00000113273 HGNC:714 ATF2 gene ATF2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115966 ENSG00000115966 HGNC:784 ATP1A2 gene ATP1A2 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481 False 1 0;0;100 5.73 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP6V0A4 gene ATP6V0A4 UKGTN Monogenic hearing loss Audiology Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 12414817;16611712 False 1 0;0;100 5.73 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP8B1 gene ATP8B1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000081923 ENSG00000081923 HGNC:3706 AXIN1 gene AXIN1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000103126 ENSG00000103126 HGNC:903 BARHL1 gene BARHL1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125492 ENSG00000125492 HGNC:953 BBS1 gene BBS1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS4 gene BBS4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140463 ENSG00000140463 HGNC:969 BCAP31 gene BCAP31 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Deafness, dystonia and cerebellar hypomyelination, 300475 False 1 0;0;0 5.73 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCR gene BCR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000186716 ENSG00000186716 HGNC:1014 BDNF gene BDNF Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176697 ENSG00000176697 HGNC:1033 BDP1 gene BDP1 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology No OMIM phenotypeHearing loss (Girotto (2013) PLoS One 8,e80323);PMID: 24312468 moderate to severe hearing impairment PMID: 11040218;11161782;24312468 False 1 0;33;67 5.73 True ENSG00000145734 ENSG00000145734 HGNC:13652 BLOC1S5 gene BLOC1S5 Expert list Monogenic hearing loss Audiology Unknown False 1 0;0;0 5.73 False ENSG00000188428 ENSG00000188428 HGNC:18561 BLOC1S6 gene BLOC1S6 Expert list Monogenic hearing loss Audiology Unknown False 1 0;0;0 5.73 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMP4 gene BMP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125378 ENSG00000125378 HGNC:1071 BSN gene BSN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164061 ENSG00000164061 HGNC:1117 BTD gene BTD Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000169814 ENSG00000169814 HGNC:1122 CACNB2 gene CACNB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165995 ENSG00000165995 HGNC:1402 CACNG2 gene CACNG2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166862 ENSG00000166862 HGNC:1406 CASP3 gene CASP3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164305 ENSG00000164305 HGNC:1504 CATSPER2 gene CATSPER2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166762 ENSG00000166762 HGNC:18810 CD151 gene CD151 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Nephropathywithpretibialepidermolysisbullosaanddeafness,609057 False 1 0;0;100 5.73 False ENSG00000177697 ENSG00000177697 HGNC:1630 CD164 gene CD164 Expert list Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Deafness, autosomal dominant 66 616969 26197441 False 1 0;0;100 5.73 False ENSG00000135535 ENSG00000135535 HGNC:1632 CDKN1B gene CDKN1B Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2D gene CDKN2D Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000129355 ENSG00000129355 HGNC:1790 CELSR1 gene CELSR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000075275 ENSG00000075275 HGNC:1850 CHRNA9 gene CHRNA9 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000174343 ENSG00000174343 HGNC:14079 CKB gene CKB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166165 ENSG00000166165 HGNC:1991 CLDN11 gene CLDN11 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000013297 ENSG00000013297 HGNC:8514 CLNS1A gene CLNS1A Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000074201 ENSG00000074201 HGNC:2080 CNRIP1 gene CNRIP1 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;100 5.73 False ENSG00000119865 ENSG00000119865 HGNC:24546 COL4A3 gene COL4A3 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alport syndrome, autosomal recessive, 203780Hematuria, benign familial, 141200Alport syndrome, autosomal dominant, 104200;Alportsyndrome,autosomalrecessive,203780Hematuria,benignfamilial,141200Alportsyndrome,autosomaldominant,104200 False 1 0;0;0 5.73 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 False 1 0;0;0 5.73 False ENSG00000081052 ENSG00000081052 HGNC:2206 CPLX1 gene CPLX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168993 ENSG00000168993 HGNC:2309 DACT1 gene DACT1 Literature;Other Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 5.73 False ENSG00000165617 ENSG00000165617 HGNC:17748 DDB2 gene DDB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDR1 gene DDR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000204580 ENSG00000204580 HGNC:2730 DIO2 gene DIO2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000211448 ENSG00000211448 HGNC:2884 DIO3 gene DIO3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197406 ENSG00000197406 HGNC:2885 DLX2 gene DLX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115844 ENSG00000115844 HGNC:2915 DLX5 gene DLX5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMD gene DMD Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000198947 ENSG00000198947 HGNC:2928 DVL1 gene DVL1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL2 gene DVL2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000004975 ENSG00000004975 HGNC:3086 DVL3 gene DVL3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000161202 ENSG00000161202 HGNC:3087 EPHA10 gene EPHA10 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted postlingual non-syndromic genetic hearing loss, MONDO:0016298 36048850 False 1 0;0;100 5.73 False ENSG00000183317 ENSG00000183317 HGNC:19987 EPHB1 gene EPHB1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000154928 ENSG00000154928 HGNC:3392 EPHB2 gene EPHB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133216 ENSG00000133216 HGNC:3393 EPHB3 gene EPHB3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182580 ENSG00000182580 HGNC:3394 ERAL1 gene ERAL1 Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6 617565" 28449065 False 1 0;0;100 5.73 False ENSG00000132591 ENSG00000132591 HGNC:3424 ERBB4 gene ERBB4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000178568 ENSG00000178568 HGNC:3432 ERCC1 gene ERCC1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134899 ENSG00000134899 HGNC:3437 ESR2 gene ESR2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140009 ENSG00000140009 HGNC:3468 FABP4 gene FABP4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000170323 ENSG00000170323 HGNC:3559 FAS gene FAS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000026103 ENSG00000026103 HGNC:11920 FBXO2 gene FBXO2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000116661 ENSG00000116661 HGNC:13581 FGFR1 gene FGFR1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIGN gene FIGN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182263 ENSG00000182263 HGNC:13285 FKBP14 gene FKBP14 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,;Ehlers Danlossyndromewithprogressivekyphoscoliosis,myopathy,andhearingloss,614557 False 1 0;0;0 5.73 False ENSG00000106080 ENSG00000106080 HGNC:18625 FOXC1 gene FOXC1 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXG1 gene FOXG1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176165 ENSG00000176165 HGNC:3811 FZD3 gene FZD3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104290 ENSG00000104290 HGNC:4041 FZD6 gene FZD6 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000164930 ENSG00000164930 HGNC:4044 GBX2 gene GBX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168505 ENSG00000168505 HGNC:4186 GFER gene GFER Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076;Myopathy,mitochondrialprogressive,withcongenitalcataract,hearingloss,anddevelopmentaldelay,613076 False 1 0;0;100 5.73 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFI1 gene GFI1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162676 ENSG00000162676 HGNC:4237 GJA1 gene GJA1 Expert Monogenic hearing loss Audiology Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400 False 1 0;0;100 5.73 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA1P1 gene GJA1P1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000176857 ENSG00000176857 HGNC:4275 GJB1 gene GJB1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000169562 ENSG00000169562 HGNC:4283 GJB4 gene GJB4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000189433 ENSG00000189433 HGNC:4286 GJB5 gene GJB5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000189280 ENSG00000189280 HGNC:4287 GLI3 gene GLI3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000106571 ENSG00000106571 HGNC:4319 GOSR2 gene GOSR2 Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal hearing loss, autosomal recessive, MONDO:0019588 37074134 False 1 0;0;100 5.73 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPX1 gene GPX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000233276 ENSG00000233276 HGNC:4553 GRAP gene GRAP Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 114, OMIM:618456 30610177 False 1 0;0;100 5.73 False ENSG00000154016 ENSG00000154016 HGNC:4562 GRID1 gene GRID1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000182771 ENSG00000182771 HGNC:4575 GSTM1 gene GSTM1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000134184 ENSG00000134184 HGNC:4632 GSTP1 gene GSTP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000084207 ENSG00000084207 HGNC:4638 GSTT1 gene GSTT1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000184674 - HGNC:4641 GUSB gene GUSB Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000169919 ENSG00000169919 HGNC:4696 HAL gene HAL Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000084110 ENSG00000084110 HGNC:4806 HARS gene HARS Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B, 614504 PMID: 12056811;22279524;22930593;25035493;26072516;2874482;2996334;3464104;7755634 False 1 0;50;50 5.73 True ENSG00000170445 ENSG00000170445 HGNC:4816 HES1 gene HES1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000114315 ENSG00000114315 HGNC:5192 HES5 gene HES5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197921 ENSG00000197921 HGNC:19764 HMX2 gene HMX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000188816 ENSG00000188816 HGNC:5018 HMX3 gene HMX3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000188620 ENSG00000188620 HGNC:5019 HOXA1 gene HOXA1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000105991 ENSG00000105991 HGNC:5099 HOXB1 gene HOXB1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000120094 ENSG00000120094 HGNC:5111 HTRA2 gene HTRA2 Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 1 0;50;50 5.73 False ENSG00000115317 ENSG00000115317 HGNC:14348 IFT88 gene IFT88 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000032742 ENSG00000032742 HGNC:20606 IGF1 gene IGF1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Insulin-like growth factor I deficiency, OMIM:608747 False 1 0;0;0 5.73 False ENSG00000017427 ENSG00000017427 HGNC:5464 ITGA8 gene ITGA8 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000077943 ENSG00000077943 HGNC:6144 JAG1 gene JAG1 Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992 False 1 0;0;0 5.73 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAG2 gene JAG2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000184916 ENSG00000184916 HGNC:6189 KCNMA1 gene KCNMA1 Expert;Expert Review Red Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 31152168 False 1 0;0;100 5.73 False ENSG00000156113 ENSG00000156113 HGNC:6284 LAMA2 gene LAMA2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133424 ENSG00000133424 HGNC:6511 LFNG gene LFNG Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000106003 ENSG00000106003 HGNC:6560 LMO4 gene LMO4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000143013 ENSG00000143013 HGNC:6644 LRIG3 gene LRIG3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000139263 ENSG00000139263 HGNC:30991 LRP2 gene LRP2 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000081479 ENSG00000081479 HGNC:6694 MAFB gene MAFB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAP1A gene MAP1A Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166963 ENSG00000166963 HGNC:6835 MCOLN3 gene MCOLN3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000055732 ENSG00000055732 HGNC:13358 MIR182 gene MIR182 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000207990 ENSG00000207990 HGNC:31553 MIR183 gene MIR183 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000207691 ENSG00000207691 HGNC:31554 MKKS gene MKKS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125863 ENSG00000125863 HGNC:7108 MOS gene MOS Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000172680 ENSG00000172680 HGNC:7199 MPV17 gene MPV17 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115204 ENSG00000115204 HGNC:7224 MSX2 gene MSX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTAP gene MTAP Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000099810 ENSG00000099810 HGNC:7413 MYO1C gene MYO1C Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000197879 ENSG00000197879 HGNC:7597 MYO1F gene MYO1F Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000142347 ENSG00000142347 HGNC:7600 NAV2 gene NAV2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166833 ENSG00000166833 HGNC:15997 NCOA3 gene NCOA3 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic hearing loss 33326993 False 1 0;0;100 5.73 False ENSG00000124151 ENSG00000124151 HGNC:7670 NDP gene NDP Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000124479 ENSG00000124479 HGNC:7678 NEU1 gene NEU1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD1 gene NEUROD1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG1 gene NEUROG1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000181965 ENSG00000181965 HGNC:7764 NF1 gene NF1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000196712 ENSG00000196712 HGNC:7765 NLRP3 gene NLRP3 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CINCA syndrome, OMIM:607115;Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Muckle-Wells syndrome, OMIM:191900 False 1 0;0;0 5.73 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOTCH1 gene NOTCH1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOX3 gene NOX3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000074771 ENSG00000074771 HGNC:7890 NOXO1 gene NOXO1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000196408 ENSG00000196408 HGNC:19404 NR2F1 gene NR2F1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175745 ENSG00000175745 HGNC:7975 NR4A3 gene NR4A3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000119508 ENSG00000119508 HGNC:7982 NTF3 gene NTF3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000185652 ENSG00000185652 HGNC:8023 NTRK2 gene NTRK2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000148053 ENSG00000148053 HGNC:8032 NTRK3 gene NTRK3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000140538 ENSG00000140538 HGNC:8033 OC90 gene OC90 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000253117 ENSG00000253117 HGNC:8100 OTOP1 gene OTOP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163982 ENSG00000163982 HGNC:19656 OTOR gene OTOR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000125879 ENSG00000125879 HGNC:8517 OTX1 gene OTX1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000115507 ENSG00000115507 HGNC:8521 OTX2 gene OTX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165588 ENSG00000165588 HGNC:8522 PET100 gene PET100 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Mitochondrial complex IV deficiency, 220110 False 1 0;0;0 5.73 False ENSG00000229833 ENSG00000229833 HGNC:40038 PHEX gene PHEX Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000102174 ENSG00000102174 HGNC:8918 PIK3C2A gene PIK3C2A Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 31034465 False 1 0;100;0 5.73 False ENSG00000011405 ENSG00000011405 HGNC:8971 PITX2 gene PITX2 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;100 5.73 False ENSG00000164093 ENSG00000164093 HGNC:9005 PLEK gene PLEK Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;0 5.73 False ENSG00000115956 ENSG00000115956 HGNC:9070 PNOC gene PNOC Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000168081 ENSG00000168081 HGNC:9163 POLD1 gene POLD1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 False 1 0;0;100 5.73 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLH gene POLH Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000170734 ENSG00000170734 HGNC:9181 POLR1C gene POLR1C Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000186184 ENSG00000186184 HGNC:20422 POU1F1 gene POU1F1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPP3R1 gene PPP3R1 Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Deafness, autosomal dominant 58 MIM#615654" 32337552;19159392 False 1 0;0;0 5.73 False ENSG00000221823 ENSG00000221823 HGNC:9317 PROP1 gene PROP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000175325 ENSG00000175325 HGNC:9455 PRRX1 gene PRRX1 Expert Monogenic hearing loss Audiology Agnathia-otocephaly complex, OMIM:202650 False 1 0;0;0 5.73 False ENSG00000116132 ENSG00000116132 HGNC:9142 PRRX2 gene PRRX2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000167157 ENSG00000167157 HGNC:21338 PTK7 gene PTK7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000112655 ENSG00000112655 HGNC:9618 RARA gene RARA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000131759 ENSG00000131759 HGNC:9864 RARB gene RARB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARG gene RARG Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000172819 ENSG00000172819 HGNC:9866 RASA1 gene RASA1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000145715 ENSG00000145715 HGNC:9871 RPGR gene RPGR Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinitis pigmentosa 3, 300029;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455;Macular degeneration, X-linked atrophic, 300834;Cone-rod dystrophy, X-linked, 1, 304020 PMID: 10094550;10401007;10482958;10699176;10725384;10932196;10958647;10958648;10970770;11702207;11754050;11857109;11875055;11950860;11968081;11978759;11992260;12140192;12160730;12657579;12766038;12920075;14564670;14627685;14691151;15671266;15772089;15914600;16043481;16055928;16387007;16565408;16969763;17195164;17320077;17325176;1733835;17405150;17480003;19815619;19955120;20631154;23150612;24043777;7611300;8673101;8817343;9326322;9350809;9399904;9488274;9855162 False 1 0;33;67 5.73 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPS6KA3 gene RPS6KA3 Emory Genetics Laboratory Monogenic hearing loss Audiology hearing loss False 1 0;0;0 5.73 False ENSG00000177189 ENSG00000177189 HGNC:10432 SARS gene SARS Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 28236339;34570399 False 1 0;100;0 5.73 False ENSG00000031698 ENSG00000031698 HGNC:10537 SCARB2 gene SCARB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCD5 gene SCD5 Expert Review Red;Literature Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 79 OMIM:619086;deafness, autosomal dominant 79 MONDO:0033668 31972369 False 1 0;0;100 5.73 False ENSG00000145284 ENSG00000145284 HGNC:21088 SCRIB gene SCRIB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000180900 ENSG00000180900 HGNC:30377 SDHD gene SDHD Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Paragangliomas 1, with or without deafness, 168000 False 1 0;0;0 5.73 False ENSG00000204370 ENSG00000204370 HGNC:10683 SIX5 gene SIX5 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2, OMIM:610896 PMID:10773454;10802667;10802668;11978764;14704431;15163633;17357085;21280147;7777532;8595416;9158137;9241282;9241283;9949207 False 1 0;25;75 5.73 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC12A6 gene SLC12A6 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A7 gene SLC12A7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000113504 ENSG00000113504 HGNC:10915 SLC1A3 gene SLC1A3 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC29A3 gene SLC29A3 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism PMID: 15701636;16118898;16155931;16650224;17461801;18940313;18947330;19175903;19889517;20140240;20595384;20619369;21178579;21888995;22174130;22238637;22653152;22875837;23530176;9545394 False 1 0;0;100 5.73 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC30A4 gene SLC30A4 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000104154 ENSG00000104154 HGNC:11015 SLC33A1 gene SLC33A1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Spastic paraplegia 42, autosomal dominant, 612539;Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482 False 1 0;0;0 5.73 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC4A7 gene SLC4A7 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000033867 ENSG00000033867 HGNC:11033 SLC9A1 gene SLC9A1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000090020 ENSG00000090020 HGNC:11071 SMS gene SMS Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000102172 ENSG00000102172 HGNC:11123 SOBP gene SOBP Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000112320 ENSG00000112320 HGNC:29256 SOD1 gene SOD1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000142168 ENSG00000142168 HGNC:11179 SOX9 gene SOX9 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000125398 ENSG00000125398 HGNC:11204 SPINK5 gene SPINK5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPRY2 gene SPRY2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000136158 ENSG00000136158 HGNC:11270 ST3GAL5 gene ST3GAL5 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000115525 ENSG00000115525 HGNC:10872 SYNJ2 gene SYNJ2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000078269 ENSG00000078269 HGNC:11504 TBL1X gene TBL1X Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000101849 ENSG00000101849 HGNC:11585 TBX1 gene TBX1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX10 gene TBX10 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000167800 ENSG00000167800 HGNC:11593 TCF21 gene TCF21 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000118526 ENSG00000118526 HGNC:11632 TCOF1 gene TCOF1 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000070814 ENSG00000070814 HGNC:11654 TGFA gene TGFA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163235 ENSG00000163235 HGNC:11765 TGFB2 gene TGFB2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000092969 ENSG00000092969 HGNC:11768 THRA gene THRA Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000151090 ENSG00000151090 HGNC:11799 TJP2 gene TJP2 Emory Genetics Laboratory;Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Monogenic hearing loss Audiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hearing loss;Nonsyndromic Hearing Loss, Dominant;Cholestasis, progressive familial intrahepatic 4, 615878;Hypercholanemia, familial, 607748 PMID: 10601346;11018256;12403786;12704386;18172007;18616530;20602916;24614073;25921221;7951235;8824195;24752540 False 1 0;33;67 5.73 True ENSG00000119139 ENSG00000119139 HGNC:11828 TMEM132E gene TMEM132E Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal Nonsyndromic Hearing Loss 25331638;31656313 False 1 0;100;0 5.73 False ENSG00000181291 ENSG00000181291 HGNC:26991 TMPRSS5 gene TMPRSS5 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166682 ENSG00000166682 HGNC:14908 TNFRSF11B gene TNFRSF11B Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000164761 ENSG00000164761 HGNC:11909 TRMU gene TRMU Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology {Deafness, mitochondrial, modifier of}, 580000;{Deafness,mitochondrial,modifierof},580000 False 1 0;0;0 5.73 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRPV4 gene TRPV4 Expert Monogenic hearing loss Audiology False 1 0;0;0 5.73 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSHR gene TSHR Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000165409 ENSG00000165409 HGNC:12373 TSPEAR gene TSPEAR Expert;Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Deafness, autosomal recessive 98, 614861 26969326;22678063 False 1 0;100;0 5.73 False ENSG00000175894 ENSG00000175894 HGNC:1268 TUB gene TUB Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000166402 ENSG00000166402 HGNC:12406 TYRP1 gene TYRP1 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000107165 ENSG00000107165 HGNC:12450 UCN gene UCN Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000163794 ENSG00000163794 HGNC:12516 VANGL2 gene VANGL2 Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000162738 ENSG00000162738 HGNC:15511 XPC gene XPC Expert Monogenic hearing loss Audiology False 1 0;0;100 5.73 False ENSG00000154767 ENSG00000154767 HGNC:12816 YAP1 gene YAP1 Radboud University Medical Center, Nijmegen Monogenic hearing loss Audiology Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433 False 1 0;0;0 5.73 False ENSG00000137693 ENSG00000137693 HGNC:16262 ZPR1 gene ZPR1 Expert Review Red;Literature Monogenic hearing loss Audiology BIALLELIC, autosomal or pseudoautosomal ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 29851065 False 1 0;0;100 5.73 False ENSG00000109917 ENSG00000109917 HGNC:13051