Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATYPICAL GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY	309252	PSAP	Unknown	—	Orphanet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
GAUCHER DISEASE	C0017205 MESH:D005776 MONDO:0018150 MONDO_0018150	GBA1	Causal	10757640 12359135 21250698 21370884 26027833 9101438	CTD, ClinGen, ClinVar, Disgenet, GenCC	—
		PRX	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		ACE	Unknown	12359135	CTD, Disgenet	Renin-angiotensin system Renin secretion Chagas disease +4 more
		ADRB1	Unknown	22388998	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +12 more
		CHIT1	Unknown	17464953	CTD, Disgenet	Amino sugar and nucleotide sugar metabolism Metabolic pathways Digestion of dietary carbohydrate +1 more
		CLN8	Unknown	22388998	GWAS catalog	—
		ELP1	Unknown	—	Disgenet	—
		NHLRC2	Unknown	22388998	GWAS catalog	Platelet degranulation
		NTRK3	Unknown	22388998	GWAS catalog	Calcium signaling pathway Neurotrophin signaling pathway Central carbon metabolism in cancer +4 more
		PKLR	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
		SMPD1	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
		SNCA	Unknown	19576930	CTD, Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		TNF	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
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	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
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	Lysosome Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
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	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
GAUCHER DISEASE, PERINATAL LETHAL	608013 C1842704 MESH:C564306	GBA1	Unknown	—	CTD, Disgenet, HPO	—
GAUCHER DISEASE, TYPE 1	C1961835	GBA1	Unknown	—	Disgenet	—
		MSH6	Unknown	—	Disgenet	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		SCARB2	Unknown	—	Disgenet	Lysosome Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
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	8829663 11933202 15292921 8432537 9182788 8294033 11992489 8076951 10744424 8294487 7627184 16293621 9554454 9516376 7475546 10447266 8937765 17620502 7627192 9217217 15916907 19846850 9650766 1974409 8829654 9061570 10352942 15826241 1972019 18332251	Disgenet, ClinGen	—

Gaucher disease

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