Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.010 GeneticVariation BEFREE The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. 21919901 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. 21919901 2012