Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations. 27862862

2017
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 25423878

2015
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Autism traits in the RASopathies. 24101678

2014
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR MEK genomics in development and disease. 22753777

2012
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 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
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Orthopaedic conditions in Ras/MAPK related disorders. 21654472

2011
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. 20958325

2010
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 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
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. 12529707

2003
dbSNP: rs397516793
rs397516793
MAP2K1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR CFC index for the diagnosis of cardiofaciocutaneous syndrome. 12239713

2002