Disease: Cardio-facio-cutaneous syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 CausalMutation CLINVAR In vivo severity ranking of Ras pathway mutations associated with developmental disorders. 28049852 2017
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304 2013
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144 2009
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 GeneticVariation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924 2007
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924 2007
dbSNP: rs397516792
rs397516792
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007