Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS	C0002736 803 MONDO:0004976 MESH:D000690 MONDO_0004976	ALS2	Causal	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
		ANXA11	Causal	28469040	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis
		ATXN2	Causal	24085347 27377857 28478440	CTD, Disgenet, Orphanet	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		CHRNA3	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Cholinergic synapse Chemical carcinogenesis - receptor activation +3 more
		DCTN1	Causal	12627231 15326253 16240349 17620987 18094236 18305234 18852346 19279216 19506225 23143281 23408943 23941283 24343258 25109764 25382069 25558820 26662454 27066542 27573046 28792508 29490687 31291987 31432357 31788332 32023010 33754	ClinGen, Disgenet, GWAS catalog, Orphanet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		ERBB4	Causal	24119685 32065797	CTD, Disgenet, Orphanet	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more
		FIG4	Causal	24085347	Disgenet, GWAS catalog, Orphanet	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
		SETX	Causal	—	Disgenet	Amyotrophic lateral sclerosis
		SOD1	Causal	10025816 10930589 11220737 11590119 11723166 12586733 12626432 12684256 16495328 17097207 17319283 17496168 18233996 19635794 19929749 20132483 20177826 20348957 20515040 21867702 22537108 23027932 23280792 23583883 24885036 25164	CTD, Disgenet, GWAS catalog, Orphanet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		SPG11	Causal	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SPTLC1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		TBK1	Causal	25700176 27455348 29566793 34873335	Disgenet, GWAS catalog, Orphanet	Ras signaling pathway Mitophagy - animal Autophagy - animal +32 more
AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE	620285 C5830359 MONDO:0859529	SPTLC1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE	C2750729 MESH:C567699	FUS	Causal	—	CTD, Disgenet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 1	MONDO:0007103	DCTN1	Causal	20538972 38035964 24138986 38134563 22203986 25701391 18996918 28463112 37558109 15446584 15322088 20363051 20368421 29415125 7849698 15326253 16240349 23219954 17671248	ClinVar, GenCC, ClinGen	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		PRPH	Causal	23219954 20368421 24138986 15446584 15322088 20363051 29415125 18996918 28463112 37558109 20538972 38134563 25701391 22203986 17671248 16240349 7849698 38035964 15326253	ClinVar, GenCC, ClinGen	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SOD1	Causal	11717358 19483195 22292843 26719414 8004110 8446170	ClinGen, ClinVar, GWAS catalog	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 10	MONDO:0012790	TARDBP	Causal	—	ClinGen, ClinVar, GenCC	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS TYPE 11	MONDO:0012945	FIG4	Causal	—	ClinGen, ClinVar, GenCC	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 12	MONDO:0013264	OPTN	Causal	20428114 21074290 21217154 21220178 21613650 21802176 21825243 21852022 22402017 23062601 23178947 23721573 25382069 25588603 25859013 26203661 26503823 26740678 27493188 27534431 29558868 30519240 31838784 33727253 34258561 34272	CTD, ClinGen, ClinVar	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 15	MONDO:0010459	UBQLN2	Causal	15147878 21857683 22560112 22717235 22892309 23138764 23312802 23582661 24684794 24771548 25179229 25681989 26075709 27834214 28716533 30442662 31475037	ClinGen, ClinVar, GWAS catalog	Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis Cargo recognition for clathrin-mediated endocytosis
AMYOTROPHIC LATERAL SCLEROSIS TYPE 16	MONDO:0013715	SIGMAR1	Causal	21842496 25175561 27821430 28160950 30311446	ClinVar, GenCC	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS TYPE 18	MONDO:0013891	PFN1	Causal	22801503 23141414 23428184 25499087 26908597 27669692 27681617 28040732 31444357 31802421	ClinGen, ClinVar, GenCC	Rap1 signaling pathway Regulation of actin cytoskeleton Amyotrophic lateral sclerosis +5 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 19	MONDO:0014223	ERBB4	Causal	24119685 28642336 29650794 7477376	ClinGen, ClinVar, GWAS catalog	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 2, JUVENILE	MONDO:0008780	ALS2	Causal	—	ClinVar, GenCC	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
AMYOTROPHIC LATERAL SCLEROSIS TYPE 20	MONDO:0014181	HNRNPA1	Causal	—	ClinVar, GenCC	Spliceosome Amyotrophic lateral sclerosis FGFR2 alternative splicing +2 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 21	MONDO:0011632	MATR3	Causal	24686783 25154462 25771394 26493020 28029397	ClinVar, GenCC	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS TYPE 22	MONDO:0014531	TUBA4A	Causal	—	ClinGen, ClinVar, GenCC	Phagosome Apoptosis Tight junction +40 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 23	MONDO:0027694	ANXA11	Causal	28469040 29650794 29845112 30054183 30337194 33087501 33218681 33589474 33618928 34099057	ClinGen, ClinVar, GWAS catalog	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS TYPE 4	357043 MONDO:0011223	SETX	Causal	15106121 15478096	ClinVar, GenCC, Orphanet	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS TYPE 5	MONDO:0011196	SPG11	Causal	—	ClinVar, GenCC	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS TYPE 6	MONDO:0011951	FUS	Causal	19251627 19251628 19741215 20232451 20668259 21408206 22057404 23474818 24036913 26362943 26842965	ClinGen, ClinVar, Orphanet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 8	MONDO:0012077	VAPB	Causal	15372378 16729899 16967488 17804640 18322265 18701194 20447143 20577002 20940299 22878164 23446633 24271015 26362257 26566915 27049303 27978769 28813618 28993872 29560381 33972508	CTD, ClinGen, ClinVar	Cholesterol metabolism Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases +1 more
AMYOTROPHIC LATERAL SCLEROSIS TYPE 9	MONDO:0012753	ANG	Causal	—	ClinGen, ClinVar, GenCC	Amyotrophic lateral sclerosis Adherens junctions interactions
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24	MONDO:0054750	NEK1	Causal	25700176 26945885 27455347 28935222 29149916 29929116 30093141 30940688 30976013 30992335 31108397 31475037 31768050 32462798 32772750 32920598 33445179 34544842 34564799	CTD, ClinGen, ClinVar	—
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25	MONDO:0060670	KIF5A	Causal	12682084 22466687 25355224 29342275 29566793 30301576 32888732	ClinGen, ClinVar	Endocytosis Dopaminergic synapse Motor proteins +12 more
JUVENILE AMYOTROPHIC LATERAL SCLEROSIS	300605 C3468114 MONDO:0017593	ALS2	Causal	23282280	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
		ERLIN1	Causal	—	Disgenet	ABC-family proteins mediated transport Defective CFTR causes cystic fibrosis
		FUS	Causal	20579074 21907581 20668261 23046859 22248478	Disgenet, Orphanet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
		PLEKHG5	Causal	—	Disgenet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
		SPG11	Causal	20110243 22154821 24085347	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SYNE1	Causal	—	Disgenet	Cytoskeleton in muscle cells
		VRK1	Causal	—	Disgenet	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation

Amyotrophic lateral sclerosis

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