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: 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: 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: 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: 51473
Gene Symbol: DCDC2
DCDC2
doublecortin domain containing 2 0.546 0.769 5.7E-10
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.410 limited 1.000 3 0 2012 2015
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: 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: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.400 moderate 1.000 6 0 1999 2015
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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.390 definitive 1.000 6 0 2001 2019
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: 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: 4646
Gene Symbol: MYO6
MYO6
myosin VI 0.631 0.731 2.4E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.360 definitive 1.000 7 0 2001 2019
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: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.350 limited 1.000 2 0 2014 2019
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3
GIPC PDZ domain containing family member 3 0.780 0.231 9.3E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.350 definitive 1.000 2 0 2007 2014
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: 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: 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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
immunoglobulin like domain containing receptor 1 0.729 0.346 2.6E-12
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 8 0 2005 2018
Entrez Id: 153562
Gene Symbol: MARVELD2
MARVELD2
MARVEL domain containing 2 0.705 0.462 1.3E-12
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 7 0 2005 2016
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
taperin 0.839 0.115 7.2E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 definitive 1.000 6 0 2010 2019
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.340 limited 1.000 5 0 2000 2009
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: 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