Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT PARKINSON DISEASE 1	MONDO:0008200	SNCA	Causal	—	ClinVar, GenCC	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
AUTOSOMAL DOMINANT PARKINSON DISEASE 4	MONDO:0011562	SNCA	Causal	—	ClinVar, GenCC	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
AUTOSOMAL DOMINANT PARKINSON DISEASE 8	MONDO:0011764	LRRK2	Causal	—	ClinVar, GenCC	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 23	MONDO:0014796	VPS13C	Causal	26942284 28137300	ClinVar, GWAS catalog	—
AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 6	MONDO:0011613	PINK1	Causal	—	ClinVar, GenCC	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
AUTOSOMAL RECESSIVE EARLY-ONSET PARKINSON DISEASE 7	MONDO:0011658	PARK7	Causal	—	ClinVar, GenCC	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
AUTOSOMAL RECESSIVE JUVENILE PARKINSON DISEASE 2	MONDO:0010820	PRKN	Causal	—	ClinVar, GenCC	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
AUTOSOMAL RECESSIVE PARKINSON DISEASE 14	MONDO:0013060	PLA2G6	Causal	—	ClinVar, GenCC	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
EARLY-ONSET PARKINSON DISEASE 20	MONDO:0014233	SYNJ1	Causal	—	ClinVar, GenCC	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
JUVENILE ONSET PARKINSON DISEASE 19A	MONDO:0014231	DNAJC6	Causal	—	ClinVar, GenCC	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
PARKINSON DISEASE	C0030567 MESH:D010300 MONDO:0005180 MONDO_0005180	GBA1	Causal	15525722 15591280 18160183 19433656 20947659 25064009 21472771 22387070 24905578 26117366 27182965 28890071 30160596 31701892 33402667 33753743 36759515 37633302 37842648 39080267	CTD, ClinGen, Disgenet, GWAS catalog	—
		LRRK2	Causal	15541308 15541309 15680456 16250030 16269541 17388990 19915575 19915576 20205471 22043175 23017109 23472874 23628791 25149416 25475535 25631236 18258746 21292315 21686713 21738487 22438815 25064009 26865512 27182965 28892059 29127	CTD, ClinGen, Disgenet, GWAS catalog	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		VPS13C	Causal	—	Disgenet	—
PARKINSON DISEASE 12	C1845165	PRKN	Causal	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
PARKINSON DISEASE 17	C3280133 MONDO:0013625 OMIM:614203	VPS35	Causal	—	CTD, ClinVar, Disgenet, GenCC, ClinGen	Endocytosis WNT ligand biogenesis and trafficking
PARKINSON DISEASE 19B, EARLY-ONSET	C4310802	DNAJC6	Causal	—	Disgenet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT	616710 C4225238 MONDO:0014742 OMIM:616710	CHCHD2	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—
PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO	MONDO:0859183	PSAP	Causal	32201884 33793763	CTD, ClinVar	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	620482 C5882680 MONDO:0957576	PTPA	Causal	—	ClinVar, Disgenet, HPO	Insulin resistance Diabetic cardiomyopathy
YOUNG-ONSET PARKINSON DISEASE	2828 MONDO:0017279	LRRK2	Causal	—	Orphanet, ClinGen	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		PARK7	Causal	—	GWAS catalog, Orphanet, ClinGen	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
		PRKN	Causal	22166458	Disgenet, Orphanet, ClinGen	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
		SYNJ1	Causal	22166458	GWAS catalog, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		VPS13C	Causal	22166458	GWAS catalog, Orphanet	—

Parkinson disease

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