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: 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: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
mannose binding lectin 2 0.390 0.846 2.7E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51561
Gene Symbol: IL23A
IL23A
interleukin 23 subunit alpha 0.415 0.846 0.36
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
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: 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
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: 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: 5967
Gene Symbol: REG1A
REG1A
regenerating family member 1 alpha 0.467 0.846 1.3E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
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: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.060 None 1.000 6 1 1997 2010
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
GATA binding protein 2 0.496 0.654 0.98
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
prostaglandin D2 synthase 0.503 0.846 5.1E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 1998 2000
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: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.100 None 1.000 18 2 1997 2019
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: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.060 None 0.833 6 0 2003 2019
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: 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: 5978
Gene Symbol: REST
REST
RE1 silencing transcription factor 0.535 0.808 0.99
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2008 2008
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: 6546
Gene Symbol: SLC8A1
SLC8A1
solute carrier family 8 member A1 0.544 0.769 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018