PISD, phosphatidylserine decarboxylase, 23761

N. diseases: 13; N. variants: 4
Disease: Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019