Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	C0393556	ABHD16A	Unknown	—	Disgenet	Glycerolipid metabolism Metabolic pathways
		B4GALNT1	Unknown	—	Disgenet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
		DSTYK	Unknown	—	Disgenet	—
		ENTPD1	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Metabolic pathways +4 more
		GBA2	Unknown	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		MAG	Unknown	—	Disgenet	Cell adhesion molecules Axonal growth inhibition (RHOA activation) Basigin interactions
		NT5C2	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more
		PRKN	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum +8 more
		SORL1	Unknown	—	Disgenet	Amyloid fiber formation
hereditary spastic paraplegia		UCHL1	Unknown	—	ClinGen	Parkinson disease Pathways of neurodegeneration - multiple diseases UCH proteinases
RNASEH2B-RELATED HEREDITARY SPASTIC PARAPLEGIA	689234	RNASEH2B	Unknown	38229641	Orphanet	DNA replication
SPASTIC PARAPLEGIA, HEREDITARY	C0037773 MESH:D015419	ABCD1	Unknown	—	Disgenet	ABC transporters Peroxisome ABC transporters in lipid homeostasis +5 more
		ADAM28	Unknown	—	Disgenet	—
		ADGRB2	Unknown	—	Disgenet	—
		ALDH18A1	Unknown	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ALS2	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
		AMPD2	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		AP4B1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		AP4E1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		AP4M1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis
		AP4S1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis
		AP5B1	Unknown	—	Disgenet	—
		AP5Z1	Unknown	—	Disgenet, ClinGen	—
		ARHGAP9	Unknown	—	Disgenet	Rho GTPase cycle Neutrophil degranulation
		ARL6IP1	Unknown	—	Disgenet, ClinGen	—
		ARSI	Unknown	—	Disgenet	Glycosphingolipid metabolism The activation of arylsulfatases
		ATL1	Unknown	35925862	Disgenet	—
		B4GALNT1	Unknown	—	Disgenet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
		BICD2	Unknown	—	Disgenet	Viral life cycle - HIV-1 COPI-independent Golgi-to-ER retrograde traffic
		BSCL2	Unknown	—	Disgenet	—
		C19ORF12	Unknown	—	Disgenet	—
		CCT5	Unknown	—	Disgenet	Association of TriC/CCT with target proteins during biosynthesis BBSome-mediated cargo-targeting to cilium Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
		CEP63	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CNNM2	Unknown	—	Disgenet	—
		CPT1C	Unknown	—	Disgenet, ClinGen	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway +6 more
		CYP2U1	Unknown	23176821	Disgenet, ClinGen	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
		CYP7B1	Unknown	18252231 19812052	CTD, Disgenet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
		DCLRE1B	Unknown	—	Disgenet	Fanconi Anemia Pathway
		DDHD1	Unknown	23176821 15786464	Disgenet, ClinGen	Synthesis of PA
		DDHD2	Unknown	—	Disgenet	Synthesis of PA
		DNAJC16	Unknown	—	Disgenet	—
		DNM2	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Fc gamma R-mediated phagocytosis +13 more
		DSTYK	Unknown	—	Disgenet	—
		ENTPD1	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Metabolic pathways +4 more
		ERLIN1	Unknown	24482476	Disgenet	ABC-family proteins mediated transport Defective CFTR causes cystic fibrosis
		ERLIN2	Unknown	21796390 23109142 22554690 23897027 27824013 23109145 25977983 29528531 23085305 28832565 21330303	Disgenet	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
		FA2H	Unknown	27604308	Disgenet	Sphingolipid de novo biosynthesis
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		FLRT1	Unknown	—	Disgenet	Downstream signaling of activated FGFR1
		GAD1	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism beta-Alanine metabolism Taurine and hypotaurine metabolism +6 more
		GBA2	Unknown	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		GJC2	Unknown	—	Disgenet	Gap junction assembly
		HSPD1	Unknown	—	Disgenet	RNA degradation Type I diabetes mellitus Legionellosis +4 more
		MAG	Unknown	—	Disgenet	Cell adhesion molecules Axonal growth inhibition (RHOA activation) Basigin interactions
		NT5C2	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more

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Hereditary spastic paraplegia

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