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: 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: 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: 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: 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: 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: 3798
Gene Symbol: KIF5A
KIF5A
kinesin family member 5A 0.593 0.731 1.00
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2014 2014
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: 374462
Gene Symbol: PTPRQ
PTPRQ
protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
STT3 oligosaccharyltransferase complex catalytic subunit A 0.670 0.577 2.0E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
histidine triad nucleotide binding protein 1 0.619 0.577 1.8E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
immunoglobulin like domain containing receptor 1 0.729 0.346 2.6E-12
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 51081
Gene Symbol: MRPS7
MRPS7
mitochondrial ribosomal protein S7 0.722 0.500 1.3E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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