Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMYOTROPHIC LATERAL SCLEROSIS	C0002736 MONDO:0004976 MONDO_0004976 MESH:D000690 803	DNAJC7	Unknown	34233860 31768050 37870677 32897108 35456894 35039179	ClinGen, Disgenet, GenCC	Regulation of HSF1-mediated heat shock response
		DOCK1	Unknown	17362836	GWAS catalog	Efferocytosis Focal adhesion Fc gamma R-mediated phagocytosis +10 more
		DPP6	Unknown	18057069 18084291 18987618	CTD, Disgenet, GWAS catalog	—
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		EFEMP1	Unknown	19451621	GWAS catalog	Molecules associated with elastic fibres
		EGR1	Unknown	22959728	GWAS catalog	Apelin signaling pathway GnRH signaling pathway Parathyroid hormone synthesis, secretion and action +6 more
		ELP3	Unknown	37558109 20368421 18996918 38134563 20538972 38035964 7849698 23219954 24138986 29415125 15322088 20363051 16240349 15446584 15326253 17671248 28463112 22203986 25701391	Disgenet	—
		ERCC6L2	Unknown	30879219	CTD	—
		ERGIC1	Unknown	34873335	GWAS catalog	—
		ERICH6B	Unknown	34873335	GWAS catalog	—
		ERLIN1	Unknown	—	Disgenet	ABC-family proteins mediated transport Defective CFTR causes cystic fibrosis
		ESRRA	Unknown	22975021	CTD, Disgenet	PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis Nuclear Receptor transcription pathway +1 more
		EWSR1	Unknown	22454397 29170628	ClinGen, Disgenet, GenCC	Transcriptional misregulation in cancer
		FERD3L	Unknown	24931836	GWAS catalog	—
		FHDC1	Unknown	17362836	GWAS catalog	—
		FIRRM	Unknown	19451621	GWAS catalog	—
		FUS	Unknown	19251628 20660363 20668259 23867462 24085347 24439481 25457557 26362943 26795035 28478440 29419416 29434138 30455313 30344044 31626953	CTD, Disgenet, Orphanet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
		G2E3	Unknown	34873335	GWAS catalog	—
		GFAP	Unknown	11723166	CTD, Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GLE1	Unknown	25343993 25694449 26776475 34025336 9618489	ClinGen, Disgenet, GWAS catalog, Orphanet	Nucleocytoplasmic transport mRNA surveillance pathway Amyotrophic lateral sclerosis +1 more
		GLG1	Unknown	39024449	GWAS catalog	Cell adhesion molecules Cell surface interactions at the vascular wall
		GLT8D1	Unknown	20562862 24309898 29483533 30811981 31653410 33581933 33714647 34746377 35525134 35873773	CTD, ClinGen, Disgenet, Orphanet	—
		GOT1	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +10 more
		GRN	Unknown	—	Disgenet	Neutrophil degranulation
		GSK3A	Unknown	—	Disgenet	Chemokine signaling pathway Dopaminergic synapse Non-alcoholic fatty liver disease +4 more
		GSK3B	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Chemokine signaling pathway +59 more
		GSR	Unknown	16681429	CTD, Disgenet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +4 more
		GSTP1	Unknown	16109392	CTD, Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +11 more
		HLA-DQB1	Unknown	34873335	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HMGB1	Unknown	39024449	Disgenet, GWAS catalog	Base excision repair Autophagy - animal Necroptosis +7 more
		HNRNPA1	Unknown	23455423	Disgenet, Orphanet	Spliceosome Amyotrophic lateral sclerosis FGFR2 alternative splicing +2 more
		HNRNPA2B1	Unknown	25299611 27773581 23455423	Disgenet, GenCC	Amyotrophic lateral sclerosis mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA +1 more
		IFRD1	Unknown	22959728	GWAS catalog	—
		ITPR2	Unknown	17827064	Disgenet, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +48 more
		KALRN	Unknown	26580837	GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle EPHB-mediated forward signaling +3 more
		KANK1	Unknown	—	Disgenet	Estrogen-dependent gene expression Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
		KCNG2	Unknown	20801717	GWAS catalog	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNS3	Unknown	17362836 18084291	GWAS catalog	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KDM4A	Unknown	22959728	GWAS catalog	HDMs demethylate histones Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
		KIAA0513	Unknown	22959728	GWAS catalog	—
		KIF5A	Unknown	29566793 34873335	Disgenet, GWAS catalog	Endocytosis Dopaminergic synapse Motor proteins +12 more
		KIFAP3	Unknown	19451621	GWAS catalog	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		LAMA3	Unknown	22959728	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LGALSL	Unknown	30940688	ClinGen, Disgenet	—
		LHX8	Unknown	31872054	GWAS catalog	—
		LIPC	Unknown	18084291	GWAS catalog	Glycerolipid metabolism Metabolic pathways Cholesterol metabolism +2 more
		MAPK1	Unknown	31872054	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +161 more
		MATR3	Unknown	24686783	Disgenet, GenCC, Orphanet	Amyotrophic lateral sclerosis
		MFN1	Unknown	22975021	CTD, Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MFN2	Unknown	22975021	CTD, Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
AMYOTROPHIC LATERAL SCLEROSIS 1	C1862939 MESH:C531617	GFAP	Unknown	11796754	CTD, Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
AMYOTROPHIC LATERAL SCLEROSIS 10	C2677565	GRN	Unknown	—	Disgenet	Neutrophil degranulation
AMYOTROPHIC LATERAL SCLEROSIS 20	615426 C3715156 OMIM:615426	HNRNPA1	Unknown	—	CTD, Disgenet, HPO	Spliceosome Amyotrophic lateral sclerosis FGFR2 alternative splicing +2 more
AMYOTROPHIC LATERAL SCLEROSIS 21	606070 C3807521	MATR3	Unknown	—	Disgenet, HPO	Amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	608030	FUS	Unknown	—	HPO	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 6	C2931786	FUS	Unknown	—	Disgenet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more

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Amyotrophic lateral sclerosis

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