Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Clinical review of known individuals with MEK1/MEK2 mutations suggests that these patients show dysmorphic features, ectodermal abnormalities and cognitive deficit similar to what was observed in BRAF-mutated patients and in the general CFCS population. 19156172

2009
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Approximately 25% of individuals with CFC have mutations in either MEK1 or MEK2 that lead to increased MEK kinase activity as judged by increased phosphorylation of its downstream effector ERK. 18413255

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker CLINGEN Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006