Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
INTERMEDIATE MAPLE SYRUP URINE DISEASE	268162 C1621920 MONDO:0017052	BCKDHA	Unknown	20301495	Disgenet GWAS catalog Orphanet
		BCKDHB	Unknown	20301495	Disgenet GWAS catalog Orphanet
		DBT	Unknown	20301495	CTD Disgenet Orphanet
		PPM1K	Unknown	23086801	Disgenet GWAS catalog Orphanet
INTERMITTENT MAPLE SYRUP URINE DISEASE	268173 C0268569 MONDO:0017053	BCKDHA	Unknown	20301495	Disgenet GWAS catalog Orphanet
		BCKDHB	Unknown	20301495	Disgenet GWAS catalog Orphanet
		DBT	Unknown	20301495	CTD Disgenet Orphanet
MAPLE SYRUP URINE DISEASE	C0024776 MESH:D008375 MONDO:0009563ORPHA511PS248600	BCKDHA	Causal	—	CTD ClinVar Disgenet GenCC
		BCKDHB	Causal	16786533 22593002	ClinVar Disgenet GWAS catalog
		DBT	Causal	10915611 16579849 1990841 22046030 22727569 24486081 26683372 28417071 28919799 9621512	CTD ClinGen Disgenet
		BCAT2	Unknown	14755340	CTD Disgenet
		DLD	Unknown	—	Disgenet
		PPM1K	Unknown	—	CTD Disgenet
MAPLE SYRUP URINE DISEASE TYPE 1A	MONDO:0023691	BCKDHA	Causal	—	ClinGen ClinVar GenCC
MAPLE SYRUP URINE DISEASE TYPE 1B	MONDO:0023692	BCKDHB	Causal	—	ClinGen ClinVar GenCC
MAPLE SYRUP URINE DISEASE TYPE 2	MONDO:0023693	DBT	Causal	—	ClinVar GenCC
MAPLE SYRUP URINE DISEASE, MILD VARIANT	615135 C3554575 MONDO:0014057	PPM1K	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
MAPLE SYRUP URINE DISEASE, MILD VARIANT	615135 C3554575 MONDO:0014057	BCKDK	Unknown	—	Disgenet
MAPLE SYRUP URINE DISEASE, TYPE 1A	C2930989	BCKDHA	Unknown	—	Disgenet
MAPLE SYRUP URINE DISEASE, TYPE 1B	C2930990	BCKDHB	Unknown	—	Disgenet
MAPLE SYRUP URINE DISEASE, TYPE IA	248600 C1855369	BCKDHA	Unknown	—	Disgenet HPO
		BCKDHB	Unknown	—	Disgenet
		DBT	Unknown	—	Disgenet
MAPLE SYRUP URINE DISEASE, TYPE IB	620698	BCKDHB	Unknown	—	HPO
MAPLE SYRUP URINE DISEASE, TYPE II	620699 C1855371	DBT	Unknown	—	Disgenet HPO

Maple syrup urine disease