DisGeNET - a database of gene-disease associations

CARDIOFACIOCUTANEOUS SYNDROME 2, C3809005

Variant: rs104894359 ×

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:

rs104894359

KRAS

0.800

GeneticVariation

UNIPROT

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

21797849

2012

dbSNP:

rs104894359

KRAS

0.800

GeneticVariation

UNIPROT

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

20949621

2011

dbSNP:

rs104894359

KRAS

0.800

GeneticVariation

UNIPROT

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

17056636

2007

dbSNP:

rs104894359

KRAS

0.800

GeneticVariation

UNIPROT

Germline KRAS mutations cause Noonan syndrome.

16474405

2006

dbSNP:

rs104894359

KRAS

0.800

GeneticVariation

UNIPROT

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

16474404

2006

dbSNP:

rs104894359

KRAS

0.800

CausalMutation

CLINVAR