Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		0.710 GeneticVariation BEFREE Our findings indicated that miR-195 inhibited WT and L613V RAF-1 induced hyperactive osteoblast differentiation in MC3T3-E1 cells by targeting RAF-1. miR-195 might be a novel therapeutic agent for the treatment of L613V-induced bone deformity in Noonan syndrome. 29197556 2018
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 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: C0028326
Disease:
Noonan Syndrome 		C 0.710 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: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.710 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: C0028326
Disease:
Noonan Syndrome 		C 0.710 GeneticVariation CLINVAR A GaN bulk crystal with improved structural quality grown by the ammonothermal method. 17603489 2007