Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial pulmonary arterial hypertension
0.300 GermlineCausalMutation disease ORPHANET TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 23592887 2013
Familial pulmonary arterial hypertension
0.300 GermlineCausalMutation disease ORPHANET Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781 2013