Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 152926
Gene Symbol: PPM1K
PPM1K 		0.500 GermlineCausalMutation disease 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 		0.500 Biomarker disease CTD_human
Entrez Id: 587
Gene Symbol: BCAT2
BCAT2 		0.300 Biomarker disease CTD_human ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. 14755340 2004
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB 		0.300 Biomarker disease CTD_human
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA 		0.300 Biomarker disease CTD_human
Entrez Id: 1629
Gene Symbol: DBT
DBT 		0.300 Biomarker disease CTD_human