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: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.450 None 1.000 6 1 2002 2008
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: 4549
Gene Symbol: RNR1
RNR1
s-rRNA 0.626 0.769
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 4 0 1997 2005
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: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.310 None 1.000 2 0 2000 2008
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: 83715
Gene Symbol: ESPN
ESPN
espin 0.700 0.385 2.9E-09
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 2 0 2004 2006
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: 7809
Gene Symbol: BSND
BSND
barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.020 None 1.000 2 0 2006 2006
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
pejvakin 0.769 0.115 3.7E-08
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.400 None 1.000 1 3 2007 2007
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 5 2005 2005
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: 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: 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: 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: 9381
Gene Symbol: OTOF
OTOF
otoferlin 0.691 0.385 5.4E-39
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.400 None 1.000 1 2 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: 5357
Gene Symbol: PLS1
PLS1
plastin 1 0.821 0.346 1.1E-05
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A
cell division cycle 14A 0.736 0.385 9.6E-08
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
spermatogenesis and centriole associated 1 like 0.792 0.154 1.7E-08
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.300 None 1.000 1 0 2019 2019
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
solute carrier family 4 member 11 0.674 0.385 4.6E-15
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2002 2002
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: 6888
Gene Symbol: TALDO1
TALDO1
transaldolase 1 0.608 0.654 2.5E-06
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C0011053
Disease: Deafness
Deafness
phenotype 0.010 None 1.000 1 0 2004 2004