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: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.310 None 1.000 1 0 2002 2002
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.200 None 1.000 1 0 2006 2006
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.040 None 1.000 4 0 2003 2008
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 1997 1997
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
epidermal growth factor receptor pathway substrate 8 0.608 0.615 0.97
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.100 None 0 1
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3
potassium two pore domain channel subfamily K member 3 0.584 0.654 0.90
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.200 None 1.000 1 0 2007 2007
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
GATA binding protein 3 0.415 0.846 0.90
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.040 None 1.000 4 0 2004 2006
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
forkhead box I1 0.686 0.462 0.77
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 2 0 2009 2009
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
potassium voltage-gated channel subfamily Q member 4 0.674 0.462 0.47
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2003 2003
Entrez Id: 23761
Gene Symbol: PISD
PISD
phosphatidylserine decarboxylase 0.821 0.308 0.22
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 3775
Gene Symbol: KCNK1
KCNK1
potassium two pore domain channel subfamily K member 1 0.760 0.462 3.1E-02
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.200 None 1.000 1 0 2007 2007
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2
transmembrane O-mannosyltransferase targeting cadherins 2 0.760 0.269 2.3E-02
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.500 None 1.000 1 0 2016 2016
Entrez Id: 54207
Gene Symbol: KCNK10
KCNK10
potassium two pore domain channel subfamily K member 10 0.751 0.231 3.1E-03
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.200 None 1.000 1 0 2007 2007
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.500 strong 1.000 2 0 1998 1999
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
claudin 14 0.705 0.462 1.1E-04
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.400 None 1.000 1 1 2001 2001
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.100 None 0 1
Entrez Id: 204
Gene Symbol: AK2
AK2
adenylate kinase 2 0.678 0.423 6.3E-05
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.310 None 1.000 1 0 2009 2009
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.100 None 0 2