Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS 1	C1862939 MESH:C531617 105400	DCTN1	Unknown	—	CTD, Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		FGF6	Unknown	11796754	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +36 more
		FMO1	Unknown	17127561	CTD, Disgenet	Taurine and hypotaurine metabolism Drug metabolism - cytochrome P450 Metabolic pathways +1 more
		FOS	Unknown	11796754	CTD, Disgenet	Endocrine resistance MAPK signaling pathway cAMP signaling pathway +51 more
		GABRA1	Unknown	11796754	CTD, Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GBX2	Unknown	11796754	CTD, Disgenet	—
		GDI1	Unknown	11796754	CTD, Disgenet	Rho GTPase cycle RAB GEFs exchange GTP for GDP on RABs
		GRIA3	Unknown	15264227	CTD, Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +15 more
		GSX2	Unknown	11796754	CTD, Disgenet	—
		HSF1	Unknown	24256636	CTD, Disgenet	Legionellosis Regulation of HSF1-mediated heat shock response HSF1 activation +2 more
		INA	Unknown	11796754	CTD, Disgenet	—
		JAK3	Unknown	11796754	CTD, Disgenet	Chemokine signaling pathway PI3K-Akt signaling pathway Necroptosis +21 more
		JUND	Unknown	11796754	CTD, Disgenet	MAPK signaling pathway Osteoclast differentiation IL-17 signaling pathway +3 more
		KIF3C	Unknown	11796754	CTD, Disgenet	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		LAT	Unknown	11796754	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway NF-kappa B signaling pathway +15 more
		LDLR	Unknown	11796754	CTD, Disgenet	Virion - Hepatitis viruses Endocytosis Ovarian steroidogenesis +12 more
		MT1A	Unknown	—	Disgenet	Mineral absorption Metallothioneins bind metals
		OTOG	Unknown	11796754	CTD	—
		PDGFA	Unknown	11796754	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +24 more
		PENK	Unknown	11796754	CTD, Disgenet	Neuroactive ligand-receptor interaction Hormone signaling Peptide ligand-binding receptors +3 more
		RXRA	Unknown	11796754	CTD, Disgenet	PPAR signaling pathway Efferocytosis PI3K-Akt signaling pathway +39 more
		SCAF4	Unknown	—	Disgenet	—
		SELPLG	Unknown	11796754	CTD, Disgenet	Cell adhesion molecules Neutrophil extracellular trap formation Staphylococcus aureus infection +1 more
		SERPINA3	Unknown	—	Disgenet	Platelet degranulation Neutrophil degranulation
		SHC1	Unknown	11796754	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +52 more
		SIX2	Unknown	11796754	CTD, Disgenet	—
		SNAI1	Unknown	11796754	CTD, Disgenet	Adherens junction Regulation of PTEN gene transcription
		SOD1	Unknown	10764647 11181815 11346368 11675877 11796754 11951178 12127151 15096637 15264227 15522870 16105836 19227972 20485746 21140194 23612299 24163136 24256636 26694608 8967745	CTD, Disgenet, HPO	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		TLE3	Unknown	11796754	CTD, Disgenet	Wnt signaling pathway Notch signaling pathway Formation of the beta-catenin:TCF transactivating complex +3 more
		TMSB4X	Unknown	11796754	CTD, Disgenet	Regulation of actin cytoskeleton Platelet degranulation
		TNF	Unknown	11796754	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
		UBQLN4	Unknown	18996918 17671248 7849698 16240349 28463112 22203986 25701391 38134563 20538972 38035964 37558109 23219954 20368421 24138986 29415125 15322088 20363051 15326253 15446584	Disgenet	Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis
		VIM	Unknown	11796754	CTD, Disgenet	Cytoskeleton in muscle cells Epstein-Barr virus infection MicroRNAs in cancer +4 more
		WNT7A	Unknown	11796754	CTD, Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
		XIAP	Unknown	11796754	CTD, Disgenet	Platinum drug resistance NF-kappa B signaling pathway Ubiquitin mediated proteolysis +23 more
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565	ERBB4	Unknown	—	Disgenet	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more
		MASP2	Unknown	—	Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19 +3 more
		SOD1	Unknown	—	Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
AMYOTROPHIC LATERAL SCLEROSIS 11	612577 C2675491 MESH:C567244	FIG4	Unknown	—	CTD, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Amyotrophic lateral sclerosis +4 more
AMYOTROPHIC LATERAL SCLEROSIS 19	615515 C3715155 OMIM:615515	ERBB4	Unknown	—	CTD, Disgenet, HPO	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE	205100 C1859807 MESH:C565957	ALS2	Unknown	—	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
AMYOTROPHIC LATERAL SCLEROSIS 23	617839 C4693381	ANXA11	Unknown	—	Disgenet, HPO	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	619133 C5436882 MONDO:0030885	TIA1	Unknown	23401021 24659297 28817800 29216908 29235362 29457785 29699721 29773329 29886022	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	FGFR2 alternative splicing
AMYOTROPHIC LATERAL SCLEROSIS 28	620452 C5830642 MONDO:0957538	LRP12	Unknown	—	ClinVar, Disgenet, HPO	Retinoid metabolism and transport
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE	602433 C1865409 MESH:C566550	SETX	Unknown	—	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS 5	C1865864 MESH:C566576	SPG11	Unknown	—	CTD, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE	602099	SPG11	Unknown	—	HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS, PARKINSONISM, DEMENTIA COMPLEX	C0543859	PARK7	Unknown	—	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases SUMOylation of transcription cofactors +1 more
	C0543859	TRPM7	Unknown	—	Disgenet	Necroptosis Cellular senescence NOD-like receptor signaling pathway +2 more
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX	MONDO:0007104	TRPM7	Unknown	16051700 30090657	ClinVar, GenCC	Necroptosis Cellular senescence NOD-like receptor signaling pathway +2 more
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1	OMIM:105500	TRPM7	Unknown	—	CTD	Necroptosis Cellular senescence NOD-like receptor signaling pathway +2 more
AUTOSOMAL RECESSIVE AMYOTROPHIC LATERAL SCLEROSIS TYPE 1	C5686324	SOD1	Unknown	—	Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
JUVENILE AMYOTROPHIC LATERAL SCLEROSIS	300605 C3468114	SPTLC1	Unknown	34459874	Disgenet, Orphanet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
JUVENILE AMYOTROPHIC LATERAL SCLEROSIS	300605 C3468114	TRPM7	Unknown	—	Disgenet	Necroptosis Cellular senescence NOD-like receptor signaling pathway +2 more
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	EFO_0001357	ABCC12	Unknown	24529757	GWAS catalog	ABC transporters
		ABCG1	Unknown	24529757	GWAS catalog	ABC transporters Lipid and atherosclerosis ABC transporters in lipid homeostasis +2 more
		ADAMTSL1	Unknown	24529757	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ERBB4	Unknown	24529757	GWAS catalog	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more

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Amyotrophic lateral sclerosis

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