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: 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: 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: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.620 strong 1.000 0 3 2014 2019
Entrez Id: 253827
Gene Symbol: MSRB3
MSRB3
methionine sulfoxide reductase B3 0.729 0.308 3.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.600 strong 1.000 0 1 2011 2014
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: 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: 2707
Gene Symbol: GJB3
GJB3
gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 1.000 0 1 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: 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: 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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.470 strong 1.000 0 15 1989 2019
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.460 strong 1.000 0 2 2003 2014
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: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 1 2009 2019
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: 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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 1 1996 2009
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: 220074
Gene Symbol: LRTOMT
LRTOMT
leucine rich transmembrane and O-methyltransferase domain containing 0.792 0.192 7.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 0 1 2007 2012
Entrez Id: 153562
Gene Symbol: MARVELD2
MARVELD2
MARVEL domain containing 2 0.705 0.462 1.3E-12
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 0 1 2008 2015
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
POU class 3 homeobox 4 0.633 0.654 0.57
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 0 3 1995 2009
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
pejvakin 0.769 0.115 3.7E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 0 1 2007 2007
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 0.667 0 1 1998 2011
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
immunoglobulin like domain containing receptor 1 0.729 0.346 2.6E-12
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 0 3 2011 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 0 2 2014 2018