DisGeNET - a database of gene-disease associations

MAP2K2, mitogen-activated protein kinase kinase 2, 5605

N. diseases: 177; N. variants: 19

Disease: CARDIOFACIOCUTANEOUS SYNDROME 4 ×

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:

rs121434497

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

20358587

2010

dbSNP:

rs121434498

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

20358587

2010

dbSNP:

rs121434499

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

20358587

2010

dbSNP:

rs267607230

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

20358587

2010

dbSNP:

rs121434497

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

18042262

2008

dbSNP:

rs121434498

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

18042262

2008

dbSNP:

rs121434499

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

18042262

2008

dbSNP:

rs267607230

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

18042262

2008

dbSNP:

rs121434497

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

16439621

2006

dbSNP:

rs121434498

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

16439621

2006

dbSNP:

rs121434499

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

16439621

2006

dbSNP:

rs267607230

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

GeneticVariation

UNIPROT

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

16439621

2006

dbSNP:

rs121434497

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434498

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434499

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607230

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057519806

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs1135401787

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387906800

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C3809007
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 4

0.700

CausalMutation

CLINVAR