DisGeNET - a database of gene-disease associations

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

N. diseases: 470; N. variants: 52

Disease: Hypertrophic Cardiomyopathy ×

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:

rs80338796

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

GeneticVariation

BEFREE

So we first reported a single mutant of RAF1 770C>T with idiopathic HCM in a very early age.

27631234

2016

dbSNP:

rs80338796

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

CausalMutation

CLINVAR

Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

17603482

2007

dbSNP:

rs80338796

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.710

CausalMutation

CLINVAR

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

17603483

2007