DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Idiopathic, C1449563

Variant: rs397516607 ×

Source: BEFREE ×

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:

rs397516607

rs397516607

RBM20

0.010

GeneticVariation

BEFREE

We identified a family with DCM carrying a mutation (RBM20(E913K/+)) in a glutamate-rich region of RBM20.

2016