DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Variant: rs727503493 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

28263784

2017

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

26408194

2016

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

26036852

2016

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

21786053

2011

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

17981648

2008

dbSNP:

rs727503493

TMPRSS3

0.700

CausalMutation

CLINVAR

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

12920079

2003