DisGeNET - a database of gene-disease associations

Myofibrillar Myopathy, C2678065

Variant: rs368434732 ×

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:

rs368434732

rs368434732

PDLIM5

0.010

GeneticVariation

BEFREE

The c.626 C > T (p.P209L) mutation in the BAG3 gene has been described as causative of a subtype of MFM.

2016