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: 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: 2619
Gene Symbol: GAS1
GAS1
growth arrest specific 1 0.587 0.654 0.82
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
otoferlin 0.691 0.385 5.4E-39
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 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: 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: 5459
Gene Symbol: POU4F3
POU4F3
POU class 4 homeobox 3 0.700 0.538 0.92
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 1999 1999
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: 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
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: 7396
Gene Symbol: USH1E
USH1E
Usher syndrome 1E (autosomal recessive, severe) 0.861 0.231
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2 0.628 0.423 1.0E-04
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2001 2001
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: 4646
Gene Symbol: MYO6
MYO6
myosin VI 0.631 0.731 2.4E-05
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2017 2017
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: 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: 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: 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: 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: 125336
Gene Symbol: LOXHD1
LOXHD1
lipoxygenase homology domains 1 0.792 0.231 5.6E-26
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2015 2015
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: 115482685
Gene Symbol: H3P13
H3P13
H3 histone pseudogene 13 0.584 0.769
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 115111
Gene Symbol: SLC26A7
SLC26A7
solute carrier family 26 member 7 0.751 0.423 1.9E-09
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018