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: 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: 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: 55814
Gene Symbol: BDP1
BDP1
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 0.890 0.154 1.3E-21
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 51475
Gene Symbol: CABP2
CABP2
calcium binding protein 2 0.861 0.115 2.5E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 strong 1.000 5 0 2007 2019
Entrez Id: 152137
Gene Symbol: CCDC50
CCDC50
coiled-coil domain containing 50 0.751 0.423 3.9E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 limited 1.000 3 0 2007 2016
Entrez Id: 8763
Gene Symbol: CD164
CD164
CD164 molecule 0.674 0.462 0.49
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 1 0 2015 2015
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A
cell division cycle 14A 0.736 0.385 9.6E-08
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 limited 1.000 1 0 2003 2018
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: 388551
Gene Symbol: CEACAM16
CEACAM16
CEA cell adhesion molecule 16, tectorial membrane component 0.805 0.192 1.6E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 moderate 1.000 4 0 2011 2015
Entrez Id: 57214
Gene Symbol: CEMIP
CEMIP
cell migration inducing hyaluronidase 1 0.617 0.615 4.4E-17
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 disputed 1.000 3 0 2003 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: 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: 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: 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: 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: 56616
Gene Symbol: DIABLO
DIABLO
diablo IAP-binding mitochondrial protein 0.555 0.692 2.6E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 limited 1.000 2 0 2000 2011
Entrez Id: 84173
Gene Symbol: ELMOD3
ELMOD3
ELMO domain containing 3 0.821 0.269 5.0E-16
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 1 0 2013 2013
Entrez Id: 64787
Gene Symbol: EPS8L2
EPS8L2
EPS8 like 2 0.890 0.231 1.5E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 moderate 1.000 3 0 2013 2017
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: 2103
Gene Symbol: ESRRB
ESRRB
estrogen related receptor beta 0.565 0.846 0.13
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 definitive 1.000 6 0 2007 2014
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: 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: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 disputed 1.000 3 0 2001 2014
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: 79977
Gene Symbol: GRHL2
GRHL2
grainyhead like transcription factor 2 0.590 0.731 1.00
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 strong 1.000 4 0 2002 2016