Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CLASSIC MAPLE SYRUP URINE DISEASE	268145 MONDO:0017051	BCKDHA	Unknown	20301495	GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Unknown	20301495	GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Unknown	20301495	CTD, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
CLASSICAL MAPLE SYRUP URINE DISEASE	C0268568	BCKDHA	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
INTERMEDIATE MAPLE SYRUP URINE DISEASE	268162 C1621920 MONDO:0017052	BCKDHA	Unknown	20301495	Disgenet, GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Unknown	20301495	Disgenet, GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Unknown	20301495	CTD, Disgenet, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		PPM1K	Unknown	23086801	Disgenet, GWAS catalog, Orphanet	Branched-chain amino acid catabolism
INTERMITTENT MAPLE SYRUP URINE DISEASE	268173 C0268569 MONDO:0017053	BCKDHA	Unknown	20301495	Disgenet, GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Unknown	20301495	Disgenet, GWAS catalog, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Unknown	20301495	CTD, Disgenet, Orphanet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE	C0024776 MESH:D008375 MONDO:0009563ORPHA511PS248600	BCKDHA	Causal	—	CTD, ClinVar, Disgenet, GenCC	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Causal	16786533 22593002	ClinVar, Disgenet, GWAS catalog	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Causal	10915611 16579849 1990841 22046030 22727569 24486081 26683372 28417071 28919799 9621512	CTD, ClinGen, Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCAT2	Unknown	14755340	CTD, Disgenet	Cysteine and methionine metabolism Valine, leucine and isoleucine degradation Valine, leucine and isoleucine biosynthesis +6 more
		DLD	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Glycine, serine and threonine metabolism +20 more
		PPM1K	Unknown	—	CTD, Disgenet	Branched-chain amino acid catabolism
MAPLE SYRUP URINE DISEASE TYPE 1A	MONDO:0023691	BCKDHA	Causal	—	ClinGen, ClinVar, GenCC	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE TYPE 1B	MONDO:0023692	BCKDHB	Causal	—	ClinGen, ClinVar, GenCC	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE TYPE 2	MONDO:0023693	DBT	Causal	—	ClinVar, GenCC	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE, MILD VARIANT	615135 C3554575 MONDO:0014057	PPM1K	Causal	23086801 36706222	ClinGen, ClinVar, Disgenet, GenCC, HPO	Branched-chain amino acid catabolism
MAPLE SYRUP URINE DISEASE, MILD VARIANT	615135 C3554575 MONDO:0014057	BCKDK	Unknown	—	Disgenet	Branched-chain amino acid catabolism
MAPLE SYRUP URINE DISEASE, TYPE 1A	C2930989	BCKDHA	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE, TYPE 1B	C2930990	BCKDHB	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE, TYPE IA	248600 C1855369	BCKDHA	Unknown	11509994 14508502 14742428 18378174 1847055 1990841 2010537 2022752 2703538 7883996 8430702 9582350 9621512	Disgenet, HPO	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		BCKDHB	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		DBT	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE, TYPE IB	620698	BCKDHB	Unknown	11509994 14742428 2022752 27896100 28417071 31119508 34288399 37421976 38837343 40082840	HPO	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
MAPLE SYRUP URINE DISEASE, TYPE II	620699 C1855371	DBT	Unknown	1847055 19480318 28417071 31119508 35657820 36911408 40082840	Disgenet, HPO, ClinGen	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more

Maple syrup urine disease

Bookmark This Disease