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: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.720 GeneticVariation BEFREE However, despite reduced levels of MEK1 protein and the lower abundance of MEK1 Y130C protein than wild type, <i>Mek1</i><sup>Y130C</sup> mutants showed increased ERK (MAPK) protein activation in response to growth factors, supporting a role for MEK1 Y130C in hyperactivation of the RAS/MAPK pathway, leading to CFC. 29590634 2018
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia. 24637312 2014
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel. 24236184 2013
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. 22848035 2012
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172 2009
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. 18632602 2008
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815 2008
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 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: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.720 GeneticVariation BEFREE The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. 17567882 2007
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. 17567882 2007
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		G 0.720 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006