Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	C4274355	ADH1C	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +8 more
		ATXN2	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN3	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +2 more
		DNAJC13	Unknown	—	Disgenet	Neutrophil degranulation
		EIF4G1	Unknown	—	Disgenet	Viral myocarditis ISG15 antiviral mechanism L13a-mediated translational silencing of Ceruloplasmin expression +9 more
		GBA1	Unknown	—	Disgenet	—
		GSTP1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +11 more
		HLA-DRA	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		LRRK2	Unknown	—	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		MAPT	Unknown	—	Disgenet	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
		SNCA	Unknown	—	Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		TBP	Unknown	—	Disgenet	Basal transcription factors Huntington disease Spinocerebellar ataxia +18 more
		VPS35	Unknown	—	Disgenet	Endocytosis WNT ligand biogenesis and trafficking
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
IDIOPATHIC PARKINSONISM OR PARKINSONS DISEASE	C0865475	DNAJC6	Unknown	—	Disgenet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
		SNCA	Unknown	—	Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		VPS13C	Unknown	—	Disgenet	—
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	—
		A2M	Unknown	—	Disgenet	Complement and coagulation cascades Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation +3 more
		AACS	Unknown	33111402	GWAS catalog	Valine, leucine and isoleucine degradation Butanoate metabolism Metabolic pathways +1 more
		AAK1	Unknown	19772629	GWAS catalog	Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		ABCB1	Unknown	20558393	CTD, Disgenet	ABC transporters Bile secretion MicroRNAs in cancer +2 more
		ADARB2	Unknown	25475535	CTD, Disgenet	—
		ADD1	Unknown	38155330	GWAS catalog	Caspase-mediated cleavage of cytoskeletal proteins XBP1(S) activates chaperone genes Miscellaneous transport and binding events
		AGAP1	Unknown	28892059	GWAS catalog	Endocytosis
		AIF1	Unknown	19276553	CTD, Disgenet	—
		AKT1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		ALCAM	Unknown	39503264	GWAS catalog	Cell adhesion molecules
		ALDH2	Unknown	24491970	CTD, Disgenet	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		ALK	Unknown	37842648	GWAS catalog	Pathways in cancer Non-small cell lung cancer PD-L1 expression and PD-1 checkpoint pathway in cancer
		AMZ1	Unknown	37842648	GWAS catalog	—
		ANG	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Adherens junctions interactions
		ANO2	Unknown	33111402	GWAS catalog	Olfactory transduction Stimuli-sensing channels
		ANO5	Unknown	22451204	GWAS catalog	Efferocytosis Stimuli-sensing channels
		APOE	Unknown	30957308 33111402 36348503 39503264	GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		AQP10	Unknown	33111402	GWAS catalog	Passive transport by Aquaporins
		AREL1	Unknown	38155330	GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
		ARHGAP27	Unknown	31701892 38155330	GWAS catalog	Rho GTPase cycle
		ARHGEF2	Unknown	37842648	GWAS catalog	Tight junction Pathogenic Escherichia coli infection Shigellosis +4 more
		ASCL4	Unknown	37805635	GWAS catalog	—
		ASH1L	Unknown	34064523 37842648 38155330	GWAS catalog	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
		ASXL3	Unknown	31701892 38155330	GWAS catalog	Polycomb repressive complex
		ATF6	Unknown	19772629	GWAS catalog	Protein processing in endoplasmic reticulum Alzheimer disease Parkinson disease +5 more
		ATM	Unknown	—	Disgenet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		ATP13A2	Unknown	23628791 25149416	CTD, Disgenet	Ion transport by P-type ATPases
		ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		BAG3	Unknown	31701892 32201043	GWAS catalog	Regulation of HSF1-mediated heat shock response
		DNAJC13	Unknown	—	Disgenet	Neutrophil degranulation
		DNAJC6	Unknown	—	Disgenet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
		GSTP1	Unknown	17190945 23721876	CTD, Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +11 more
		HLA-DRA	Unknown	20711177 22451204 24511991	CTD, Disgenet, GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		MAPT	Unknown	19915575 20711177 21044948 25064009 28892059 38155330	CTD, Disgenet, GWAS catalog	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		PARK7	Unknown	12446870 14607841 15525661 15784737 17010972 20423725 20800516 22043175 22898350 23037695 23792957 25149416 16632486 18436956 26972524 28502045 30928208	CTD, ClinGen, Disgenet, GWAS catalog	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
		PINK1	Unknown	15087508 15349870 15349871 15596610 16401616 16672980 16938835 17010972 21366594 22043175 24374061 25149416 30734931 20126261 20153330 28438176	CTD, ClinGen, Disgenet	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
		PLA2G6	Unknown	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
		PRKN	Unknown	11402119 12588799 15198987 15882845 16573651 17010972 19946270 22043175 22841634 23628791 24582596 25149416 25631236 28284907 12642658 16328510 16672980 20126261 24149440 31660654 32968089 9560156	CTD, ClinGen, Disgenet, GWAS catalog, HPO	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
		SNCA	Unknown	11535288 12151787 12732244 12885775 14535945 15099020 17131421 17690948 18322262 18353766 18841091 19915575 19915576 20664293 20711177 21245015 21892157 22043175 22110584 22166454 22185909 22355530 24509835 24833599 25064009 25106	CTD, ClinGen, Disgenet, GWAS catalog, GenCC	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		SYNJ1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		VPS35	Unknown	17405131 21763482 21763483 22517097 22991136 23125461 24152121 25149416 25288323 28985717 30155515 30842285 33032646 33142012 33347683 33745227	CTD, ClinGen, Disgenet	Endocytosis WNT ligand biogenesis and trafficking
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	168601 C1868595 OMIM:168601	SNCA	Unknown	—	CTD, Disgenet, HPO	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
PARKINSON DISEASE 12	C1845165	PRKN	Causal	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	612953 C2751842 OMIM:612953	PLA2G6	Unknown	—	CTD, Disgenet, HPO	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
PARKINSON DISEASE 17	C3280133 MONDO:0013625 OMIM:614203	VPS35	Causal	—	CTD, ClinVar, Disgenet, GenCC, ClinGen	Endocytosis WNT ligand biogenesis and trafficking
PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO	MONDO:0013653 OMIM:614251	EIF4G1	Unknown	—	CTD, ClinVar, GenCC	Viral myocarditis ISG15 antiviral mechanism L13a-mediated translational silencing of Ceruloplasmin expression +9 more
PARKINSON DISEASE 19A, JUVENILE-ONSET	615528 C3809811 OMIM:615528	DNAJC6	Unknown	—	CTD, Disgenet, HPO	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
PARKINSON DISEASE 19B, EARLY-ONSET	C4310802	DNAJC6	Causal	—	Disgenet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	600116 C1868675	PRKN	Unknown	—	Disgenet, HPO	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
PARKINSON DISEASE 20, EARLY-ONSET	615530 C3809824 OMIM:615530	SYNJ1	Unknown	—	CTD, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
PARKINSON DISEASE 21	C4225353	DNAJC13	Unknown	24218364 33505021 17620502 12847165 12730996 12629236 19966284 29311685 25393719 16148263 31658403 19846850 27270108 12761037 31261387 19286695 28193887 18332251	Disgenet	Neutrophil degranulation
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	616840 OMIM:616840	VPS13C	Unknown	—	CTD, HPO	—
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET	C4225186	VPS13C	Unknown	—	Disgenet	—
PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO	MONDO:0859183	PSAP	Causal	32201884 33793763	CTD, ClinVar	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT	605543	SNCA	Unknown	—	HPO	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY	C1854182 MESH:C565324	SNCA	Unknown	—	CTD, Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	C1853833 605909 MESH:C565276	PARK7	Unknown	—	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	C1853833 605909 MESH:C565276	PINK1	Unknown	19048950 21421046 24475098 27003823	CTD, Disgenet, HPO	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	606324 C1853445 MESH:C565238	PARK7	Unknown	28348719	CTD, Disgenet, HPO	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	C1846862 OMIM:607060	LRRK2	Unknown	—	CTD, Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
PARKINSON DISEASE, MITOCHONDRIAL	C1838867	ADH1C	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +8 more
PARKINSONIAN DISORDERS	C0242422 MESH:D020734	ATP13A2	Unknown	23046578	CTD, Disgenet	Ion transport by P-type ATPases
		GBA1	Unknown	25881142	CTD, Disgenet, ClinGen	—
		LRRK2	Unknown	23046578 25017139 26558463	CTD, Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		MAPT	Unknown	10802785 19458322	CTD, Disgenet	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		PARK7	Unknown	23046578 26558463	CTD, Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
		PINK1	Unknown	11254447 15349871 23046578 24441527 24792327 26558463	CTD, Disgenet	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
		PRKN	Unknown	10072423 10894217 11254447 12764051 16914382 23046578 25640678 26558463	CTD, Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
		SNCA	Unknown	20464527 22319455 23046578 23295396 26075822 26558463 26687234 27026137 27324791 38016618	CTD, Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
YOUNG ONSET PARKINSON DISEASE	C4275179	DNAJC6	Unknown	—	Disgenet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
		LRRK2	Unknown	—	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		PARK7	Unknown	33559681	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
		PINK1	Unknown	—	Disgenet	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
		PRKN	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
		SNCA	Unknown	—	Disgenet	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more
		SYNJ1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		VPS13C	Unknown	—	Disgenet	—
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	—
		DNAJC6	Unknown	—	CTD, Orphanet	Endocytosis Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis +1 more
		PINK1	Unknown	26528954	CTD, Orphanet, ClinGen	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis +2 more
		SNCA	Unknown	22166458	Orphanet, ClinGen	Alzheimer disease Parkinson disease Pathways of neurodegeneration - multiple diseases +1 more

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Parkinson disease

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