DisGeNET - a database of gene-disease associations

MAP2K1, mitogen-activated protein kinase kinase 1, 5604

N. diseases: 389; N. variants: 43

Disease: Squamous cell carcinoma of the head and neck ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.110

Biomarker

disease

BEFREE

MAP2K1 is a potential therapeutic target in erlotinib resistant head and neck squamous cell carcinoma.

31827134

2019

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.110

GeneticVariation

disease

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016