Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76	C5567483 488594 MONDO:0014827	CAPN1	Causal	2.02E+11	Disgenet, ClinVar, GenCC, Orphanet	Protein processing in endoplasmic reticulum Apoptosis Necroptosis +8 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78	C5567893 513436 MONDO:0014975	ATP13A2	Causal	27217339 28137957 29112700	Disgenet, ClinVar, GenCC, Orphanet	Ion transport by P-type ATPases
SPASTIC PARAPLEGIA	C0037772	ABCD1	Causal	—	Disgenet	ABC transporters Peroxisome ABC transporters in lipid homeostasis +5 more
		AP4B1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		AP4E1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		AP4M1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis
		AP4S1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis
		ATL1	Causal	—	Disgenet	—
		B4GALNT1	Causal	—	Disgenet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
		BICD2	Causal	—	Disgenet	Viral life cycle - HIV-1 COPI-independent Golgi-to-ER retrograde traffic
		CYP2U1	Causal	—	Disgenet	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
		CYP7B1	Causal	—	Disgenet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
		EPB41L4A	Causal	—	Disgenet	—
		ERLIN2	Causal	—	Disgenet	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
		FA2H	Causal	—	Disgenet	Sphingolipid de novo biosynthesis
		GBA2	Causal	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		GJC2	Causal	—	Disgenet	Gap junction assembly
		HPDL	Causal	—	Disgenet	—
		IRF2BPL	Causal	—	Disgenet	—
		KDM5C	Causal	—	Disgenet	HDMs demethylate histones
		KIF1A	Causal	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF5A	Causal	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
		L1CAM	Causal	—	Disgenet	Axon guidance Cell adhesion molecules Basigin interactions +4 more
		MTM1	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		MTRFR	Causal	—	Disgenet	—
		NIPA1	Causal	—	Disgenet	Miscellaneous transport and binding events
		REEP1	Causal	—	Disgenet	Olfactory Signaling Pathway
		RNF170	Causal	—	Disgenet	—
		RTN2	Causal	—	Disgenet	—
		SACS	Causal	—	Disgenet	—
		SLC16A2	Causal	—	Disgenet	Hormone signaling Thyroid hormone signaling pathway Transport of organic anions
		SLC33A1	Causal	—	Disgenet	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Transport of vitamins, nucleosides, and related molecules +1 more
		SPAST	Causal	—	Disgenet	Sealing of the nuclear envelope (NE) by ESCRT-III
		SPG11	Causal	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
		SPG7	Causal	—	Disgenet	Processing of SMDT1
		VAMP1	Causal	—	Disgenet	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
		ZFYVE26	Causal	—	Disgenet	—
SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT	620512 C5882694 MONDO:0957788	ERLIN2	Causal	—	ClinVar, Disgenet, HPO	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT	610357	KIF1A	Causal	—	HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE	620607 C5935571 MONDO:0971149	KIF1A	Causal	—	ClinVar, Disgenet, HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE	620323 MONDO:0957221	MARS1	Causal	24482476 34585293	ClinVar, Disgenet, HPO	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE	620606 C5882720 MONDO:0957958	REEP2	Causal	—	ClinVar, Disgenet, HPO	Olfactory Signaling Pathway
SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA	620221 C5774300 MONDO:0859363	UCHL1	Causal	35986737	ClinVar, Disgenet, HPO	Parkinson disease Pathways of neurodegeneration - multiple diseases UCH proteinases
SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT	618418 C5193084 MONDO:0032737	UBAP1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE	618768 C5394033 MONDO:0032905	SELENOI	Causal	28052917 29500230	ClinVar, Disgenet, HPO	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Ether lipid metabolism +2 more
SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE	618770 C5394037 MONDO:0032906	PCYT2	Causal	32889549 31637422	ClinVar, Disgenet, HPO	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Metabolic pathways +1 more
SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE	619027 C5436637 MONDO:0033614	HPDL	Causal	—	ClinVar, Disgenet, HPO	—
SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE	619621 C5562025 MONDO:0030482	PI4KA	Causal	—	ClinVar, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE	619686 C5562053 MONDO:0030512	RNF170	Causal	26433933 31636353 33165979	ClinVar, Disgenet, GWAS catalog, HPO	—
SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE	619735 C5676910 MONDO:0030673	ABHD16A	Causal	34587489 34866177	ClinVar, Disgenet, GWAS catalog, HPO	Glycerolipid metabolism Metabolic pathways
SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE	619966 C5774182 MONDO:0031019	TMEM63C	Causal	35718349	ClinVar, Disgenet, HPO	—
SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT	620106 C5774247 MONDO:0859309	KPNA3	Causal	22960338	ClinVar, Disgenet, GWAS catalog, HPO	Nucleocytoplasmic transport Salmonella infection Chemical carcinogenesis - receptor activation +2 more
SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE	620379 C5830531 MONDO:0957274	AMFR	Causal	37119330	ClinVar, Disgenet, GWAS catalog, HPO	Mitophagy - animal Protein processing in endoplasmic reticulum N-glycan trimming in the ER and Calnexin/Calreticulin cycle +1 more
SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT	620416 C5830574 MONDO:0957308	SPTSSA	Causal	36718090	ClinVar, Disgenet, HPO	Sphingolipid signaling pathway Sphingolipid de novo biosynthesis
SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE	620417 C5830578 MONDO:0957309	SPTSSA	Causal	36718090	ClinVar, Disgenet, GWAS catalog, HPO	Sphingolipid signaling pathway Sphingolipid de novo biosynthesis
SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA	620538 C5882701 MONDO:0957813	SPTAN1	Causal	20493457 22258530 31332438 32811770 33578420 36331550	ClinVar, Disgenet, GWAS catalog, HPO	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more

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Spastic paraplegia

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