Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS	C0002736 MONDO_0004976 MESH:D000690 803 MONDO:0004976 HP:0007354PS105400	ABCA7	Unknown	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis
		ACSL5	Unknown	32968195 34873335	GWAS catalog	Fatty acid biosynthesis Fatty acid degradation Metabolic pathways +7 more
		ACTL6B	Unknown	28973294	CTD, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ACTR3B	Unknown	31872054	GWAS catalog	Endocytosis Tight junction Fc gamma R-mediated phagocytosis +6 more
		ALDH1A2	Unknown	18084291	GWAS catalog	Retinol metabolism Metabolic pathways RA biosynthesis pathway
		ANG	Unknown	20301623 23941283	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Adherens junctions interactions
		ANKS1B	Unknown	22959728	GWAS catalog	—
		AOX1	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Tyrosine metabolism Tryptophan metabolism +7 more
		APEX1	Unknown	—	Disgenet, GenCC	Base excision repair Displacement of DNA glycosylase by APEX1 POLB-Dependent Long Patch Base Excision Repair +4 more
		APOE	Unknown	—	Disgenet	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		APTX	Unknown	26580837	GWAS catalog	Base excision repair
		ARAP2	Unknown	22959728	GWAS catalog	Endocytosis Rho GTPase cycle
		ARHGEF2	Unknown	22959728	GWAS catalog	Tight junction Pathogenic Escherichia coli infection Shigellosis +4 more
		ARHGEF28	Unknown	27154192 23286752 28709720 24712971	ClinGen, Disgenet, GenCC	Yersinia infection EPHB-mediated forward signaling
		ARPP21	Unknown	29581509 30811981 31653410 35525134 38960585 39271636 8120638	ClinGen, Disgenet	—
		ATXN1	Unknown	19451621	GWAS catalog	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN3	Unknown	29566793	GWAS catalog	Protein processing in endoplasmic reticulum Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +2 more
		B4GALT6	Unknown	19451621	GWAS catalog	Sphingolipid metabolism Metabolic pathways Keratan sulfate biosynthesis +2 more
		BICD2	Unknown	—	Disgenet	Viral life cycle - HIV-1 COPI-independent Golgi-to-ER retrograde traffic
		C4ORF36	Unknown	22470424	GWAS catalog	—
		C9ORF72	Unknown	24085347 25442110 27713094 28122516 28478440 28973294 19734901 20801718 22959728 24931836 27455348 29566793 30976013 34873335	CTD, Orphanet, ClinVar, Disgenet, GWAS catalog	—
		CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CADM1	Unknown	39024449	GWAS catalog	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
		CAMK1G	Unknown	23624525 31872054	CTD, Disgenet, GWAS catalog	Calcium signaling pathway Oxytocin signaling pathway Aldosterone synthesis and secretion +1 more
		CAPN14	Unknown	—	Disgenet	Degradation of the extracellular matrix
		CAV1	Unknown	33264630 36937187	ClinGen, Disgenet, GWAS catalog	Endocytosis Focal adhesion Prion disease +11 more
		CAV2	Unknown	33264630 36937187	ClinGen, Disgenet, GWAS catalog	Endocytosis Focal adhesion Prion disease +4 more
		CCDC192	Unknown	22959728	GWAS catalog	—
		CCNF	Unknown	27080313	Disgenet, GenCC, Orphanet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		CCS	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Detoxification of Reactive Oxygen Species
		CD40LG	Unknown	20348957	CTD, Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +14 more
		CENPV	Unknown	22959728 24931836	GWAS catalog	—
		CFAP410	Unknown	26290490 26974433 27455348 29566793 32891887 34873335 36131690	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	—
		CHCHD10	Unknown	25113787 25261972 25113788 25261971 25348631 25348633 25155093	CTD, Disgenet, Orphanet	Amyotrophic lateral sclerosis
		CHMP2B	Unknown	16807408 20352044 23155438	CTD, Disgenet, GWAS catalog, Orphanet	Endocytosis Necroptosis Amyotrophic lateral sclerosis +6 more
		CHRNA4	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Cholinergic synapse Nicotine addiction +4 more
		CHRNB4	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Cholinergic synapse Chemical carcinogenesis - receptor activation +4 more
		CLCN3	Unknown	34873335	GWAS catalog	Neutrophil extracellular trap formation
		CLEC4C	Unknown	—	Disgenet, GenCC	Dectin-2 family Neutrophil degranulation
		CNOT2	Unknown	22959728	GWAS catalog	RNA degradation Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
		CNTN4	Unknown	19451621	GWAS catalog	Post-translational modification: synthesis of GPI-anchored proteins
		COMMD10	Unknown	19451621	GWAS catalog	Neddylation
		CPNE4	Unknown	22959728	GWAS catalog	—
		CREB5	Unknown	22959728	GWAS catalog	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +31 more
		CTDSP1	Unknown	22959728	GWAS catalog	—
		CYLD	Unknown	—	Disgenet, GenCC	NF-kappa B signaling pathway Necroptosis Osteoclast differentiation +9 more
		DAO	Unknown	20368421 24085347	ClinGen, Disgenet, GenCC, Orphanet	Glycine, serine and threonine metabolism Arginine and proline metabolism D-Amino acid metabolism +4 more
		DBR1	Unknown	23104007	CTD, Disgenet	—
		DDX20	Unknown	—	Disgenet	snRNP Assembly
		DISC1	Unknown	19451621	GWAS catalog	—
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565	ANG	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Adherens junctions interactions
AMYOTROPHIC LATERAL SCLEROSIS 9	611895 C2678468 MESH:C567499	ANG	Unknown	—	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis Adherens junctions interactions
AMYOTROPHIC LATERAL SCLEROSIS TYPE 17	MONDO:0013861	CHMP2B	Unknown	—	GenCC	Endocytosis Necroptosis Amyotrophic lateral sclerosis +6 more
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	EFO_0001357	C9ORF72	Unknown	24256812 28931804	GWAS catalog	—

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Amyotrophic lateral sclerosis

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