Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. 22668073

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
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: 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 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
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: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 CausalMutation CLINVAR

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 GeneticVariation CLINVAR

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 GeneticVariation CLINVAR

Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 CausalMutation CLINVAR

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 CausalMutation CLINVAR

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 GeneticVariation CLINVAR

Entrez Id: 253827
Gene Symbol: MSRB3
MSRB3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.600 CausalMutation CLINVAR

Entrez Id: 2707
Gene Symbol: GJB3
GJB3
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation CLINVAR

Entrez Id: 7007
Gene Symbol: TECTA
TECTA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR

Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation CLINVAR

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.480 CausalMutation CLINVAR

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.480 CausalMutation CLINVAR

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.480 GeneticVariation CLINVAR

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.470 GeneticVariation CLINVAR

Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.470 CausalMutation CLINVAR