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: 222662
Gene Symbol: LHFPL5
LHFPL5
LHFPL tetraspan subfamily member 5 0.861 0.192 4.0E-04
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2017 2019
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: 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: 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: 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: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.030 None 1.000 3 0 2002 2019
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.030 None 1.000 3 0 1999 2001
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: 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: 7007
Gene Symbol: TECTA
TECTA
tectorin alpha 0.700 0.385 3.0E-16
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2014 2016
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: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.050 None 1.000 5 0 1996 2018
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
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: 246213
Gene Symbol: SLC17A8
SLC17A8
solute carrier family 17 member 8 0.729 0.462 1.3E-03
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2003 2019
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3
potassium voltage-gated channel subfamily Q member 3 0.604 0.462 0.80
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2003 2008
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
potassium voltage-gated channel subfamily Q member 4 0.674 0.462 0.47
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 0 2003 2008
Entrez Id: 10186
Gene Symbol: LHFPL6
LHFPL6
LHFPL tetraspan subfamily member 6 0.705 0.462 0.67
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 153562
Gene Symbol: MARVELD2
MARVELD2
MARVEL domain containing 2 0.705 0.462 1.3E-12
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2005 2005
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: 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: 23676
Gene Symbol: SMPX
SMPX
small muscle protein X-linked 0.682 0.500 0.62
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.020 None 1.000 2 1 2017 2019
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: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.040 None 1.000 4 0 2004 2016
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease 0.010 None 1.000 1 0 2012 2012