DisGeNET - a database of gene-disease associations

RAF1, Raf-1 proto-oncogene, serine/threonine kinase, 5894

N. diseases: 470; N. variants: 52

Disease: CARDIOMYOPATHY, DILATED, 1NN ×

Variant: rs587777586 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777586

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C4014656
Disease:

CARDIOMYOPATHY, DILATED, 1NN

0.800

GeneticVariation

UNIPROT

RAF1 mutations in childhood-onset dilated cardiomyopathy.

24777450

2014

dbSNP:

rs587777586

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C4014656
Disease:

CARDIOMYOPATHY, DILATED, 1NN

0.800

CausalMutation

CLINVAR