DisGeNET - a database of gene-disease associations

Noonan Syndrome 5, C1969057

Variant: rs80338797 ×

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:

rs80338797

RAF1

0.800

GeneticVariation

UNIPROT

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

20683980

2010

dbSNP:

rs80338797

RAF1

0.800

GeneticVariation

UNIPROT

Noonan syndrome: clinical features, diagnosis, and management guidelines.

20876176

2010

dbSNP:

rs80338797

RAF1

0.800

GeneticVariation

UNIPROT

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

17603483

2007

dbSNP:

rs80338797

RAF1

0.800

GeneticVariation

UNIPROT

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

17603482

2007

dbSNP:

rs80338797

RAF1

0.800

CausalMutation

CLINVAR