DisGeNET - a database of gene-disease associations

MAP2K1, mitogen-activated protein kinase kinase 1, 5604

N. diseases: 389; N. variants: 43

Disease: Dysmorphic features ×

Variant: rs397516793 ×

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:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

27862862

2017

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

25423878

2015

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Autism traits in the RASopathies.

24101678

2014

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.

22589294

2012

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

MEK genomics in development and disease.

22753777

2012

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Orthopaedic conditions in Ras/MAPK related disorders.

21654472

2011

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

20958325

2010

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

19156172

2009

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

17704260

2007

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

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

16474404

2006

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

12529707

2003

dbSNP:

rs397516793

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

12239713

2002