PISD, phosphatidylserine decarboxylase, 23761

N. diseases: 13; N. variants: 4
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019