Source: ALL

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: 5172
Gene Symbol: SLC26A4
SLC26A4 		solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.730 strong 1.000 88 78 1998 2019
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		potassium inwardly rectifying channel subfamily J member 10 0.599 0.654 0.15
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.600 strong 1.000 2 2 1997 2009
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		forkhead box I1 0.686 0.462 0.77
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.600 limited 1.000 1 1 2018 2018
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1 		SLC26A4 antisense RNA 1 0.861 0.269
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.100 None 1.000 1 10 2014 2014
Entrez Id: 161497
Gene Symbol: STRC
STRC 		stereocilin 0.700 0.192 1.8E-15
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3 		transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5973
Gene Symbol: RENBP
RENBP 		renin binding protein 0.528 0.769 0.45
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5012
Gene Symbol: OTSC1
OTSC1 		otosclerosis 1 0.821 0.269
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1 		single-strand-selective monofunctional uracil-DNA glycosylase 1 0.322 0.923 4.5E-04
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		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: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease 0.010 None 1.000 1 0 2002 2002