Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
0.010 GeneticVariation disease BEFREE Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene. 24853097 2014