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: 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: 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: 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: 259236
Gene Symbol: TMIE
TMIE
transmembrane inner ear 0.890 0.115 7.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 7 0 2002 2014
Entrez Id: 9414
Gene Symbol: TJP2
TJP2
tight junction protein 2 0.663 0.500 3.2E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 6 0 2008 2015
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
small muscle protein X-linked 0.682 0.500 0.62
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 6 0 2011 2020
Entrez Id: 389207
Gene Symbol: GRXCR1
GRXCR1
glutaredoxin and cysteine rich domain containing 1 0.861 0.115 3.9E-11
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.330 definitive 1.000 6 0 2004 2016
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 moderate 1.000 6 0 2003 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: 340990
Gene Symbol: OTOG
OTOG
otogelin 0.805 0.231 6.6E-37
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 definitive 1.000 6 0 1997 2017
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: 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: 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: 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: 53904
Gene Symbol: MYO3A
MYO3A
myosin IIIA 0.780 0.269 1.8E-45
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 strong 1.000 5 0 2002 2018
Entrez Id: 283310
Gene Symbol: OTOGL
OTOGL
otogelin like 0.805 0.269 4.7E-52
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 definitive 1.000 5 0 2012 2017
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: 161497
Gene Symbol: STRC
STRC
stereocilin 0.700 0.192 1.8E-15
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 definitive 1.000 4 0 2001 2019
Entrez Id: 22953
Gene Symbol: P2RX2
P2RX2
purinergic receptor P2X 2 0.585 0.769 9.7E-13
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 moderate 1.000 4 0 2008 2017
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
Entrez Id: 4542
Gene Symbol: MYO1F
MYO1F
myosin IF 0.722 0.385 2.4E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 disputed 1.000 3 0 2002 2012
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.320 limited 1.000 3 0 2004 2019
Entrez Id: 3371
Gene Symbol: TNC
TNC
tenascin C 0.433 0.846 1.3E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.310 limited 1.000 3 0 1999 2013
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
glutaredoxin and cysteine rich domain containing 2 0.861 0.115 1.0E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease 0.300 moderate 1.000 3 0 2014 2018