Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1
SLC26A4 antisense RNA 1 0.861 0.269
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 5
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.480 strong 1.000 0 4 1998 2019
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 15 1998 2019
Entrez Id: 283310
Gene Symbol: OTOGL
OTOGL
otogelin like 0.805 0.269 4.7E-52
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.120 None 1.000 0 1 2013 2019
Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A
myosin IIIA 0.780 0.269 1.8E-45
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 0 4 2011 2016
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 0 7 1998 2019
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
otoferlin 0.691 0.385 5.4E-39
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.480 strong 1.000 0 15 1998 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 1.000 0 8 1998 2019
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
TRIO and F-actin binding protein 0.743 0.269 2.0E-28
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 6 2006 2017
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.630 strong 1.000 0 4 2003 2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.700 strong 1.000 0 38 1999 2018
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 3
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.450 strong 0.833 0 4 2004 2015
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 1 1998 2019
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
tectorin alpha 0.700 0.385 3.0E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 1.000 0 4 1998 2018
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 0.968 2 38 1998 2019
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4
collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 2 2002 2002
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 161497
Gene Symbol: STRC
STRC
stereocilin 0.700 0.192 1.8E-15
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.150 None 1.000 0 1 2012 2019