DisGeNET - a database of gene-disease associations

MAP2K1, mitogen-activated protein kinase kinase 1, 5604

N. diseases: 389; N. variants: 43

Disease: CARDIOFACIOCUTANEOUS SYNDROME 3 ×

Variant: rs121908594 ×

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:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

18042262

2008

dbSNP:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

dbSNP:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

CausalMutation

CLINVAR