Source: GENOMICS_ENGLAND

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: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 1.000 1 0 1998 2017
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.330 strong 1.000 1 0 1998 2019
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 1 0 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 1 0 1996 2009
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 1 0 1998 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 1 0 2003 2019
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 1 0 1998 2011
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 1 0 2003 2014
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 1 0 1989 2019
Entrez Id: 5962
Gene Symbol: RDX
RDX
radixin 0.593 0.615 0.85
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 1993 2007
Entrez Id: 56616
Gene Symbol: DIABLO
DIABLO
diablo IAP-binding mitochondrial protein 0.555 0.692 2.6E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.450 strong 1.000 1 0 1996 2015
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 1 0 2014 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 1 0 1998 2019
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2014 2014
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 1 0 1998 2019
Entrez Id: 1428
Gene Symbol: CRYM
CRYM
crystallin mu 0.769 0.346 2.6E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 limited 1.000 1 0 1997 2003
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
otoancorin 0.760 0.423 3.0E-10
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 2012 2013
Entrez Id: 152137
Gene Symbol: CCDC50
CCDC50
coiled-coil domain containing 50 0.751 0.423 3.9E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2007 2007
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 1 0 2008 2015
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
translocase of inner mitochondrial membrane 8A 0.510 0.846 0.65
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 1996 2003
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
gasdermin E 0.656 0.423 3.3E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.570 strong 0.875 1 0 1998 2012
Entrez Id: 1690
Gene Symbol: COCH
COCH
cochlin 0.659 0.385 1.2E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 0.909 1 0 1999 2019
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.623 0.654 0.92
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 2001 2016
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 1.000 1 0 1998 2012