Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS	MONDO_0004976 C0002736 MESH:D000690 MONDO:0004976 803 HP:0007354PS105400	SLC39A11	Unknown	19451621	GWAS catalog	Alzheimer disease Parkinson disease
		SLC6A1	Unknown	20132478	CTD, Disgenet	Synaptic vesicle cycle GABAergic synapse Na+/Cl- dependent neurotransmitter transporters +1 more
		SLC9A8	Unknown	34873335	GWAS catalog	Sodium/Proton exchangers
		SMARCA4	Unknown	28973294	CTD, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		SOD2	Unknown	8866423	CTD, Disgenet	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
		SPTLC2	Unknown	36966328 38041679 38041684 38316966	ClinGen, Disgenet, GWAS catalog	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		SQLE	Unknown	24931836	GWAS catalog	Steroid biosynthesis Metabolic pathways Cholesterol biosynthesis +1 more
		SQSTM1	Unknown	19765191 22084127 23303844 24138988 24085347	CTD, Disgenet, Orphanet	Mitophagy - animal Autophagy - animal Necroptosis +12 more
		SS18L1	Unknown	28973294	CTD, ClinGen, Disgenet, GenCC	ATP-dependent chromatin remodeling Transcriptional misregulation in cancer
		ST3GAL3	Unknown	22959728	GWAS catalog	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
		STK36	Unknown	22959728	GWAS catalog	—
		SUSD1	Unknown	17362836	GWAS catalog	—
		SUSD2	Unknown	23624525 31872054	GWAS catalog	—
		TAF15	Unknown	21438137 22065782 23416048 25625564 26742954 27378374 28889094 30940688 31788332 33276461	ClinGen, Disgenet, GWAS catalog, Orphanet	Basal transcription factors Transcriptional misregulation in cancer RNA Polymerase II Pre-transcription Events +5 more
		TARDBP	Unknown	18372902 21167262 22879928 23104007 23891805 24019256 24252504 26980269 28122516 28478440 29419416 30157956 24085347	CTD, Disgenet, GWAS catalog, Orphanet	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		TBC1D1	Unknown	22959728	GWAS catalog	AMPK signaling pathway
		TFAM	Unknown	—	Disgenet	Apelin signaling pathway Huntington disease Mitochondrial transcription initiation +1 more
		TIAM1	Unknown	20801718	GWAS catalog	Ras signaling pathway Rap1 signaling pathway cAMP signaling pathway +9 more
		TNFRSF21	Unknown	24113175	CTD, Disgenet	Cytokine-cytokine receptor interaction PPARA activates gene expression
		TNIP1	Unknown	29566793 34873335	Disgenet, GWAS catalog	Shigellosis Ovarian tumor domain proteases
		TP53	Unknown	17434459	CTD, Disgenet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		TREM2	Unknown	24535663	Disgenet, Orphanet	Osteoclast differentiation Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions +2 more
		TUBA4A	Unknown	28478440	CTD, Disgenet	Phagosome Apoptosis Tight junction +40 more
		TXNRD1	Unknown	—	Disgenet	Selenocompound metabolism Pathways in cancer Hepatocellular carcinoma +6 more
		TYW3	Unknown	31872054	GWAS catalog	—
		UBB	Unknown	22994484	CTD, Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Autophagy - animal +163 more
		UBQLN2	Unknown	24085347	CTD, ClinVar, Disgenet, Orphanet	Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis Cargo recognition for clathrin-mediated endocytosis
		UNC13A	Unknown	19734901 22959728 24931836 27455348 29566793 34873335	CTD, Disgenet, GWAS catalog, Orphanet	Synaptic vesicle cycle
		VAPB	Unknown	20301623 23941283	Disgenet, GWAS catalog, Orphanet	Cholesterol metabolism Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases +1 more
		VCP	Unknown	24085347	ClinVar, Disgenet, GWAS catalog, Orphanet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
		VDR	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Endocrine and other factor-regulated calcium reabsorption Mineral absorption +5 more
		VIL1	Unknown	22959728	GWAS catalog	—
		WASHC5	Unknown	24931836	GWAS catalog	Endocytosis
		YPEL1	Unknown	31872054	GWAS catalog	—
		ZBTB40	Unknown	26580837	GWAS catalog	—
		ZC3H14	Unknown	39024449	GWAS catalog	—
		ZFP64	Unknown	17362836	GWAS catalog	—
		ZNF746	Unknown	19451621	GWAS catalog	Generic Transcription Pathway
AMYOTROPHIC LATERAL SCLEROSIS 1	C1862939 MESH:C531617	BCL2L1	Unknown	11796754	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Platinum drug resistance Ras signaling pathway +28 more
		BSG	Unknown	11796754	CTD, Disgenet	Efferocytosis Degradation of the extracellular matrix Basigin interactions +4 more
		CALB2	Unknown	11796754	CTD, Disgenet	—
		CASP1	Unknown	11796754	CTD, Disgenet	Efferocytosis Necroptosis Neutrophil extracellular trap formation +20 more
		CD68	Unknown	11796754	CTD, Disgenet	Lysosome Neutrophil degranulation
		CD7	Unknown	11796754	CTD, Disgenet	Hematopoietic cell lineage
		CLU	Unknown	11796754	CTD, Disgenet	Complement and coagulation cascades Platelet degranulation Terminal pathway of complement +2 more
		CNTF	Unknown	11951178	CTD, Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
		CREBBP	Unknown	11796754	CTD, Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
		CST3	Unknown	11796754	CTD, Disgenet	Salivary secretion Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Neutrophil degranulation +2 more
		CTSD	Unknown	11796754	CTD, Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		DBX1	Unknown	11796754	CTD, Disgenet	—
		TARDBP	Unknown	24477737	CTD, Disgenet	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		TIAM1	Unknown	11796754	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway cAMP signaling pathway +9 more
		UNC13A	Unknown	—	Disgenet	Synaptic vesicle cycle
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565 MESH:C567429	TARDBP	Unknown	—	CTD, Disgenet	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565 MESH:C567429	TUBA4A	Unknown	—	Disgenet	Phagosome Apoptosis Tight junction +40 more
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	612069	TARDBP	Unknown	—	HPO	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	300857 C3275459 OMIM:300857	UBQLN2	Unknown	—	CTD, Disgenet, HPO	Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis Cargo recognition for clathrin-mediated endocytosis
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	C4015512	TUBA4A	Unknown	—	Disgenet	Phagosome Apoptosis Tight junction +40 more
AMYOTROPHIC LATERAL SCLEROSIS 8	608627 C1837728 MESH:C563895	VAPB	Unknown	—	CTD, Disgenet, HPO	Cholesterol metabolism Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases +1 more
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 6	C2931786	VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	EFO_0001357	UNC13A	Unknown	24256812 28931804	GWAS catalog	Synaptic vesicle cycle

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Amyotrophic lateral sclerosis

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