SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: succinic semialdehyde dehydrogenase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		0.010 Biomarker disease BEFREE Three drugs are presently in clinical trials: acamprosate and ganoxolon for Fragile X syndrome and SGS-742 for SSADH deficiency. 28764992 2018