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: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 56311
Gene Symbol: ANKRD7
ANKRD7
ankyrin repeat domain 7 0.890 0.346 4.3E-06
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 491
Gene Symbol: ATP2B2
ATP2B2
ATPase plasma membrane Ca2+ transporting 2 0.659 0.731 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2011 2018
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
autophagy related 5 0.462 0.885 0.98
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7809
Gene Symbol: BSND
BSND
barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 1 2003 2003
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.030 None 1.000 3 1 2011 2016
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2011 2014
Entrez Id: 1257
Gene Symbol: CNC2
CNC2
Carney complex type 2, multiple neoplasia and lentiginosis 0.674 0.692
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 388551
Gene Symbol: CEACAM16
CEACAM16
CEA cell adhesion molecule 16, tectorial membrane component 0.805 0.192 1.6E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
chloride voltage-gated channel Kb 0.593 0.692 1.4E-22
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
claudin 14 0.705 0.462 1.1E-04
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.465 0.885 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1032
Gene Symbol: CDKN2D
CDKN2D
cyclin dependent kinase inhibitor 2D 0.547 0.769 0.49
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
cystatin B 0.530 0.692 6.6E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1709
Gene Symbol: DFNB17
DFNB17
deafness, autosomal recessive 17 0.931 0.192
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 114086
Gene Symbol: DBA2
DBA2
Diamond-Blackfan anemia 2 0.599 0.731
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2104
Gene Symbol: ESRRG
ESRRG
estrogen related receptor gamma 0.621 0.692 7.1E-02
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None < 0.001 1 0 2016 2016
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2008 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.100 None 0.985 66 4 1998 2019