Frontotemporal dementia with or without amyotrophic lateral sclerosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS	MONDO:0030923	GRN	Unknown	16862115 16862116 16950801 17371905 17436289 17984093 18183624 18184915 23063362 23516300 23596077 29874572 32772750	ClinGen, Disgenet	Neutrophil degranulation
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM:105550 105550 C5779877 MONDO:0007105	C9ORF72	Causal	21944778 21944779 22154785 22300876 22366792 22418734 23254636 23284068 23393093 23597494 24166615 25977373 27112499 27334615	CTD, ClinGen, ClinVar, Disgenet, HPO	—
	OMIM:105550 105550 C5779877 MONDO:0007105	SQSTM1	Causal	—	Disgenet	Mitophagy - animal Autophagy - animal Necroptosis +12 more
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2	615911 C4014648 MONDO:0014395 OMIM:615911	CHCHD10	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Amyotrophic lateral sclerosis
	615911 C4014648 MONDO:0014395 OMIM:615911	SPG7	Unknown	—	Disgenet	Processing of SMDT1
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3	616437 C4225326 MONDO:0014640 OMIM:616437	SQSTM1	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Mitophagy - animal Autophagy - animal Necroptosis +12 more
	616437 C4225326 MONDO:0014640 OMIM:616437	GRN	Unknown	—	Disgenet	Neutrophil degranulation
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	616439 C4225325 MONDO:0014641 OMIM:616439	TBK1	Causal	22921120 25613900 25700176 25803835 30033073 30939964 31039129 32413959 33312375 36201573	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Ras signaling pathway Mitophagy - animal Autophagy - animal +32 more
	616439 C4225325 MONDO:0014641 OMIM:616439	KIF5A	Unknown	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5	619141 C5436884 MONDO:0030875	CCNF	Causal	27080313 28281833 28852778 29102476 30008669 30371781	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6	613954 C5436279 MONDO:0013501 OMIM:613954	VCP	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7	600795 MONDO:0010936 OMIM:600795	CHMP2B	Causal	16041373 16807408 17683935 17956895 20352044 22786763 23155438 23881933 26777436 27329763 28216144 29411640 29895397 33770234 34130995	CTD, ClinGen, ClinVar, GWAS catalog, HPO	Endocytosis Necroptosis Amyotrophic lateral sclerosis +6 more
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8	619132 C5436881 MONDO:0030872	CYLD	Causal	23338750 32185393 34868212	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	NF-kappa B signaling pathway Necroptosis Osteoclast differentiation +9 more
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9	616208 OMIM:616208	TUBA4A	Unknown	—	CTD, HPO	Phagosome Apoptosis Tight junction +40 more