Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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

Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation CLINVAR

Entrez Id: 6448
Gene Symbol: SGSH
SGSH
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation CLINVAR

Entrez Id: 10585
Gene Symbol: POMT1
POMT1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation CLINVAR

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation CLINVAR