Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504370
rs727504370
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815 2008
dbSNP: rs727504370
rs727504370
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
dbSNP: rs727504370
rs727504370
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007