Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS	MONDO_0004976 C0002736 MESH:D000690 803 MONDO:0004976 HP:0007354PS105400	MOB3B	Unknown	25442119	GWAS catalog	—
		MOBP	Unknown	27455348 34873335	CTD, Disgenet, GWAS catalog	—
		MORN2	Unknown	19451621	GWAS catalog	—
		MTHFR	Unknown	—	Disgenet	One carbon pool by folate Metabolic pathways Antifolate resistance +2 more
		NEFH	Unknown	16084104 21220648 23941283 25299611 26742954 27790088 28160950 28430856 28709720 28717666 29411640 29650794 30029677 31475037 31788332 32166880 32409511 33208543 33589474 34511133 7849698 8871580 9875737 9931323	CTD, ClinGen, Disgenet, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		NEFL	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		NEK1	Unknown	26945885 27455347	CTD, Disgenet, Orphanet	—
		NFE2L2	Unknown	27012417	CTD, Disgenet	Protein processing in endoplasmic reticulum Parkinson disease Pathways in cancer +4 more
		NIPA1	Unknown	—	Disgenet	Miscellaneous transport and binding events
		NME9	Unknown	24931836	GWAS catalog	—
		NPEPPS	Unknown	24234648	GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
		NPS	Unknown	17362836	GWAS catalog	Neuroactive ligand-receptor interaction Peptide ligand-binding receptors G alpha (q) signalling events +2 more
		NRF1	Unknown	22975021	CTD, Disgenet	Apelin signaling pathway Huntington disease PPARA activates gene expression +1 more
		NRG1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Amyotrophic lateral sclerosis +18 more
		NRXN3	Unknown	22959728	GWAS catalog	Cell adhesion molecules Neurexins and neuroligins
		NT5C1A	Unknown	19451621	GWAS catalog	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more
		NUP50	Unknown	36670122	ClinGen, Disgenet, GWAS catalog	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +25 more
		OPTN	Unknown	21059646 25096716 24085347	CTD, ClinVar, Disgenet, GWAS catalog, Orphanet	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
		PBDC1	Unknown	19734901	GWAS catalog	—
		PCDHA9	Unknown	—	Disgenet, GenCC	—
		PCSK5	Unknown	22959728	GWAS catalog	NGF processing Assembly of active LPL and LIPC lipase complexes
		PFN1	Unknown	22801503 23428184 24085347	CTD, Disgenet, Orphanet	Rap1 signaling pathway Regulation of actin cytoskeleton Amyotrophic lateral sclerosis +5 more
		PIGL	Unknown	22959728 24931836	GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PLA2G4A	Unknown	15816863	CTD, Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +33 more
		PNPLA6	Unknown	—	Disgenet	Glycerophospholipid metabolism Glycerophospholipid catabolism
		PNPT1	Unknown	19451621	GWAS catalog	RNA degradation
		POLR1F	Unknown	24931836	GWAS catalog	RNA polymerase
		PON1	Unknown	20582942 23941283 28070599	CTD, Disgenet, GWAS catalog, Orphanet	Synthesis of 5-eicosatetraenoic acids
		PON2	Unknown	20582942 23941283	Disgenet, GWAS catalog, Orphanet	Synthesis of 5-eicosatetraenoic acids
		PON3	Unknown	20582942 23941283	Disgenet, GWAS catalog, Orphanet	Synthesis of 5-eicosatetraenoic acids
		PPARGC1A	Unknown	22975021 23669350	CTD, Disgenet, Orphanet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		PPARGC1B	Unknown	22975021	CTD, Disgenet	Insulin resistance PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis +1 more
		PPP2R2D	Unknown	22959728	GWAS catalog	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
		PRPH	Unknown	1206566 12642616 14675609 15132161 15322088 20363051 25299611 26742954 3339087	ClinGen, Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		PTGS2	Unknown	11220737 15816863	CTD, Disgenet	Arachidonic acid metabolism Metabolic pathways NF-kappa B signaling pathway +29 more
		PTPRF	Unknown	22959728	GWAS catalog	Cell adhesion molecules Adherens junction Insulin signaling pathway +3 more
		PTPRN2	Unknown	34873335	GWAS catalog	Type I diabetes mellitus Neutrophil degranulation
		RAPGEF2	Unknown	—	Disgenet, GenCC	MAPK signaling pathway Rap1 signaling pathway Tight junction +1 more
		RBMS1	Unknown	19451621	GWAS catalog	—
		REEP2	Unknown	22959728	GWAS catalog	Olfactory Signaling Pathway
		RNASE4	Unknown	—	Disgenet	—
		SARM1	Unknown	27455348	Disgenet, GWAS catalog	Nicotinate and nicotinamide metabolism Metabolic pathways MyD88-independent TLR4 cascade +4 more
		SCFD1	Unknown	27455348 29566793	CTD, Disgenet, GWAS catalog	COPII-mediated vesicle transport
		SCN7A	Unknown	19451621	GWAS catalog	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SEC16B	Unknown	22959728	GWAS catalog	COPII-mediated vesicle transport
		SELL	Unknown	19451621	GWAS catalog	Cell adhesion molecules Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Cell surface interactions at the vascular wall +1 more
		SIGMAR1	Unknown	24885036	CTD	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SLC11A2	Unknown	—	Disgenet	Lysosome Ferroptosis Mineral absorption +5 more
		SLC18A1	Unknown	22959728	GWAS catalog	Synaptic vesicle cycle Serotonergic synapse Dopaminergic synapse +5 more
		SLC1A2	Unknown	11723166	CTD, Disgenet	Synaptic vesicle cycle Glutamatergic synapse Amyotrophic lateral sclerosis +4 more
AMYOTROPHIC LATERAL SCLEROSIS 1	C1862939 MESH:C531617	NEFH	Unknown	—	CTD, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		PON1	Unknown	17204329	CTD, Disgenet	Synthesis of 5-eicosatetraenoic acids
		PRPH	Unknown	—	CTD, Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565	OPTN	Unknown	—	Disgenet	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
		PRPH	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		RNASE4	Unknown	—	Disgenet	—
AMYOTROPHIC LATERAL SCLEROSIS 12	C3150692	OPTN	Unknown	—	Disgenet	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	613435 OMIM:613435	OPTN	Unknown	—	CTD, HPO	Mitophagy - animal Autophagy - animal Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	614373 C3280587 OMIM:614373	SIGMAR1	Unknown	—	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AMYOTROPHIC LATERAL SCLEROSIS 18	614808 C3553719 OMIM:614808	PFN1	Unknown	—	CTD, Disgenet, HPO	Rap1 signaling pathway Regulation of actin cytoskeleton Amyotrophic lateral sclerosis +5 more
AMYOTROPHIC LATERAL SCLEROSIS 9	C2678468	RNASE4	Unknown	—	Disgenet	—
AMYOTROPHIC LATERAL SCLEROSIS TYPE 1	MONDO:0007103	NEFH	Unknown	15322088 20538972 38134563 20363051 22203986 28463112 18996918 15326253 7849698 29415125 20368421 38035964 15446584 24138986 17671248 16240349 37558109 25701391 23219954	ClinVar, ClinGen	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
JUVENILE AMYOTROPHIC LATERAL SCLEROSIS	300605 C3468114 MONDO:0017593	SIGMAR1	Unknown	21842496 24085347	Disgenet, GWAS catalog, Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	EFO_0001357	MOBP	Unknown	28931804	GWAS catalog	—
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	EFO_0001357	SARM1	Unknown	28931804	GWAS catalog	Nicotinate and nicotinamide metabolism Metabolic pathways MyD88-independent TLR4 cascade +4 more

«‹1 234 5…7 ›»

Amyotrophic lateral sclerosis

Bookmark This Disease