ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
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 Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016