SERAC1, serine active site containing 1, 84947

N. diseases: 55; N. variants: 12
Disease: Lipid Metabolism, Inborn Errors ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023772
Disease: Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors 		0.300 Biomarker group CTD_human Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 22683713 2012