Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ATYPICAL GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY	309252	PSAP	Unknown	—	Orphanet
GAUCHER DISEASE	C0017205 MESH:D005776 MONDO:0018150MONDO_0018150	GBA1	Causal	10757640 12359135 21250698 21370884 26027833 9101438	CTD ClinGen ClinVar Disgenet GenCC
		PRX	Causal	—	Disgenet
		ACE	Unknown	12359135	CTD Disgenet
		ADRB1	Unknown	22388998	GWAS catalog
		CHIT1	Unknown	17464953	CTD Disgenet
		CLN8	Unknown	22388998	GWAS catalog
		ELP1	Unknown	—	Disgenet
		NHLRC2	Unknown	22388998	GWAS catalog
		NTRK3	Unknown	22388998	GWAS catalog
		PKLR	Unknown	—	Disgenet
		SMPD1	Unknown	—	Disgenet
		SNCA	Unknown	19576930	CTD Disgenet
		TNF	Unknown	—	Disgenet
GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY	MONDO:0012517	PSAP	Causal	12208132 15856305 17919309 20015957 20484222 2060627 28457694 31061751 35316504 35456468	ClinGen ClinVar GWAS catalog
GAUCHER DISEASE PERINATAL LETHAL	MONDO:0011945	GBA1	Causal	—	ClinVar GenCC
GAUCHER DISEASE TYPE 1	77259	GBA1	Unknown	20301446	Orphanet
GAUCHER DISEASE TYPE 1	77259	SCARB2	Unknown	21796727	Orphanet
GAUCHER DISEASE TYPE 2	77260	GBA1	Unknown	20301446	Orphanet
GAUCHER DISEASE TYPE 3	77261	GBA1	Unknown	20301446	Orphanet
GAUCHER DISEASE TYPE I	MONDO:0009265	GBA1	Causal	—	ClinVar GenCC
GAUCHER DISEASE TYPE II	MONDO:0009266	GBA1	Causal	—	ClinVar GenCC
GAUCHER DISEASE TYPE III	MONDO:0009267	GBA1	Causal	—	ClinVar GenCC
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	C1864651 610539 MESH:C566435	CDH23	Unknown	—	Disgenet
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	C1864651 610539 MESH:C566435	PSAP	Unknown	—	CTD Disgenet HPO
GAUCHER DISEASE, PERINATAL LETHAL	608013 C1842704 MESH:C564306	GBA1	Unknown	—	CTD Disgenet HPO
GAUCHER DISEASE, TYPE 1	C1961835	GBA1	Unknown	—	Disgenet
		MSH6	Unknown	—	Disgenet
		SCARB2	Unknown	—	Disgenet
GAUCHER DISEASE, TYPE 2	C0268250	GBA1	Unknown	—	Disgenet
GAUCHER DISEASE, TYPE 3	C0268251	GBA1	Unknown	—	Disgenet
GAUCHER DISEASE, TYPE I	230800	GBA1	Unknown	—	HPO
GAUCHER DISEASE, TYPE II	230900	GBA1	Unknown	—	HPO
GAUCHER DISEASE, TYPE III	231000	GBA1	Unknown	—	HPO
GAUCHER DISEASE, TYPE IIIC	231005 C1856476 MESH:C565553	GBA1	Unknown	—	CTD Disgenet HPO
GAUCHER-LIKE DISEASE	C2931585	GBA1	Unknown	—	Disgenet

Gaucher disease