AQP1, aquaporin 1 (Colton blood group), 358

N. diseases: 268; N. variants: 8
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018