Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 152926
Gene Symbol: PPM1K
PPM1K
Intermediate Maple Syrup Urine Disease
0.500 GermlineCausalMutation ORPHANET A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. 23086801

2013

Entrez Id: 152926
Gene Symbol: PPM1K
PPM1K
Intermediate Maple Syrup Urine Disease
0.500 Biomarker CTD_human