DisGeNET - a database of gene-disease associations

ARTHROGRYPOSIS, DISTAL, TYPE 1, C0220662

Variant: rs199476146 ×

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:

rs199476146

TPM2

0.700

CausalMutation

CLINVAR

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

26307083

2015

dbSNP:

rs199476146

TPM2

0.700

CausalMutation

CLINVAR

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

23413262

2013

dbSNP:

rs199476146

TPM2

0.700

CausalMutation

CLINVAR

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

23378224

2013