Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 161497
Gene Symbol: STRC
STRC
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation CLINVAR

Entrez Id: 283310
Gene Symbol: OTOGL
OTOGL
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation CLINVAR

Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 CausalMutation CLINVAR

Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 CausalMutation CLINVAR

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation CLINVAR

Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 GeneticVariation CLINVAR

Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 CausalMutation CLINVAR

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. 28595573

2017
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766

2016
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
Entrez Id: 23552
Gene Symbol: CDK20
CDK20
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation CLINVAR

Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation CLINVAR