SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
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 SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. 30044643 2018