Source: CLINGEN

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: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.440 limited 1.000 20 0 2001 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.330 definitive 1.000 18 0 2003 2018
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
tectorin alpha 0.700 0.385 3.0E-16
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.330 definitive 1.000 17 0 1998 2017
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
POU class 4 homeobox 3 0.700 0.538 0.92
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.360 definitive 1.000 15 0 1996 2018
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
potassium voltage-gated channel subfamily Q member 4 0.674 0.462 0.47
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.390 definitive 1.000 13 0 1999 2019
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.400 definitive 1.000 12 0 1996 2017
Entrez Id: 1690
Gene Symbol: COCH
COCH
cochlin 0.659 0.385 1.2E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 12 0 1998 2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.400 definitive 0.960 11 0 1997 2019
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
espin 0.700 0.385 2.9E-09
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 definitive 1.000 11 0 2000 2017
Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
solute carrier family 26 member 5 0.666 0.615 7.0E-08
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 limited 1.000 11 0 2000 2016
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 disputed 1.000 11 0 2013 2018
Entrez Id: 2070
Gene Symbol: EYA4
EYA4
EYA transcriptional coactivator and phosphatase 4 0.604 0.615 4.9E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 10 0 2000 2018
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 disputed 1.000 10 0 2011 2018
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
LHFPL tetraspan subfamily member 5 0.861 0.192 4.0E-04
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 10 0 2005 2018
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
pejvakin 0.769 0.115 3.7E-08
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.330 definitive 1.000 9 0 2006 2017
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.500 disputed 1.000 9 0 1998 2019
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
claudin 14 0.705 0.462 1.1E-04
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 definitive 1.000 9 0 2001 2018
Entrez Id: 5962
Gene Symbol: RDX
RDX
radixin 0.593 0.615 0.85
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 definitive 1.000 8 0 2004 2016
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.350 definitive 1.000 8 0 2005 2017
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
myosin heavy chain 14 0.663 0.577 4.2E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 8 0 2004 2017
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
otoancorin 0.760 0.423 3.0E-10
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 definitive 1.000 8 0 2002 2016
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.380 definitive 0.929 8 0 2000 2019
Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8
solute carrier family 17 member 8 0.729 0.462 1.3E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 strong 1.000 8 0 2008 2017
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.480 definitive 1.000 8 0 1998 2016
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
POU class 3 homeobox 4 0.633 0.654 0.57
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 8 0 1995 2020