rs80338796, RAF1

N. diseases: 37
Disease: Idiopathic pulmonary arterial hypertension ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. 25706034 2015