Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ALS2-RELATED MOTOR NEURON DISEASE	MONDO:0100227	ALS2	Causal	11586298 12837691 16049005 16240357 18714162 23282280 24562058 33155358	GWAS catalog	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
HEREDITARY MOTOR NEURON DISEASE	C0270763	DCTN1	Causal	—	Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		TRPV4	Causal	—	Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		GARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		MPZ	Unknown	—	Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
		NEFL	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		PLEKHG5	Unknown	—	Disgenet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
		SCN11A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		SETX	Unknown	—	Disgenet	Amyotrophic lateral sclerosis
		SH3TC2	Unknown	—	Disgenet	—
MOTOR NEURON DISEASE	C0085084 MESH:D016472	MPZ	Causal	—	Disgenet	Cell adhesion molecules EGR2 and SOX10-mediated initiation of Schwann cell myelination
		NEK1	Causal	—	Disgenet	—
		OPTN	Causal	—	Disgenet	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
		SOD1	Causal	16702190	CTD, Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		TARDBP	Causal	—	Disgenet	mRNA surveillance pathway Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		TBK1	Causal	—	Disgenet	Ras signaling pathway Mitophagy - animal Autophagy - animal +32 more
		ALS2	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
		BCL2L1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Platinum drug resistance Ras signaling pathway +28 more
		BSG	Unknown	—	Disgenet	Efferocytosis Degradation of the extracellular matrix Basigin interactions +4 more
		CALB2	Unknown	—	Disgenet	—
		CASP1	Unknown	—	Disgenet	Efferocytosis Necroptosis Neutrophil extracellular trap formation +20 more
		CD68	Unknown	—	Disgenet	Lysosome Neutrophil degranulation
		CD7	Unknown	—	Disgenet	Hematopoietic cell lineage
		CLU	Unknown	—	Disgenet	Complement and coagulation cascades Platelet degranulation Terminal pathway of complement +2 more
		CNTF	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
		CREBBP	Unknown	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
		CST3	Unknown	—	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	—	Disgenet	Sphingolipid signaling pathway Autophagy - animal Lysosome +9 more
		DBX1	Unknown	—	Disgenet	—
		DCTN1	Unknown	—	Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		DSCAML1	Unknown	—	Disgenet	DSCAM interactions
		FGF6	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +36 more
		FMO1	Unknown	—	Disgenet	Taurine and hypotaurine metabolism Drug metabolism - cytochrome P450 Metabolic pathways +1 more
		FOS	Unknown	—	Disgenet	Endocrine resistance MAPK signaling pathway cAMP signaling pathway +51 more
		GABRA1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		GBX2	Unknown	—	Disgenet	—
		GDI1	Unknown	—	Disgenet	Rho GTPase cycle RAB GEFs exchange GTP for GDP on RABs
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GRIA3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +15 more
		GSTT1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		GSX2	Unknown	—	Disgenet	—
		HSF1	Unknown	—	Disgenet	Legionellosis Regulation of HSF1-mediated heat shock response HSF1 activation +2 more
		HTRA2	Unknown	—	Disgenet	Apoptosis Apoptosis - multiple species Parkinson disease +1 more
		IGHMBP2	Unknown	—	Disgenet	—
		INA	Unknown	—	Disgenet	—
		JAK3	Unknown	—	Disgenet	Chemokine signaling pathway PI3K-Akt signaling pathway Necroptosis +21 more
		JUND	Unknown	—	Disgenet	MAPK signaling pathway Osteoclast differentiation IL-17 signaling pathway +3 more
		KIF3C	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		LAT	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway NF-kappa B signaling pathway +15 more
		LDLR	Unknown	—	Disgenet	Virion - Hepatitis viruses Endocytosis Ovarian steroidogenesis +12 more
		MT1A	Unknown	—	Disgenet	Mineral absorption Metallothioneins bind metals
		SETX	Unknown	—	Disgenet	Amyotrophic lateral sclerosis

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Motor neuron disease

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