SC5D, sterol-C5-desaturase, 6309

N. diseases: 71; N. variants: 3
Disease: Micrognathism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 AlteredExpression disease BEFREE Sc5d (-/-) pups were stillborn, had elevated lathosterol and decreased cholesterol levels, had craniofacial defects including cleft palate and micrognathia, and limb patterning defects. 12812989 2003
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker disease HPO