Disease: LEOPARD Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034 2015
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		C 0.700 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		C 0.700 CausalMutation CLINVAR Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. 19933846 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		C 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		C 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		C 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338798
rs80338798
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338799
rs80338799
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease:
LEOPARD Syndrome 		A 0.700 CausalMutation CLINVAR