Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77	C5569007 466722	FARS2	Unknown	26553276	Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 82	631073 C5816767	PCYT2	Unknown	31637422	Disgenet, Orphanet	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Metabolic pathways +1 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 83	631076 C5816768	HPDL	Unknown	33188300	Disgenet, Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 84	631079 C5816769	PI4KA	Unknown	34415322	Disgenet, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 85	631082 C5816770	RNF170	Unknown	31636353	Disgenet, Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 86	631085 C5816776	ABHD16A	Unknown	34489854	Disgenet, Orphanet	Glycerolipid metabolism Metabolic pathways
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 87	631088 C5816775	TMEM63C	Unknown	35718349	Disgenet, Orphanet	—
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 18	209951	ERLIN2	Unknown	21330303	Orphanet	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30	101010	KIF1A	Unknown	22258533 26410750	Orphanet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 58	397946	KIF1C	Unknown	24319291 24482476	Orphanet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72	401849	REEP2	Unknown	24388663	Orphanet	Olfactory Signaling Pathway
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	607225	ALS2	Unknown	—	HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases RAB GEFs exchange GTP for GDP on RABs
SPASTIC PARAPLEGIA	C0037772	ABHD16A	Unknown	—	Disgenet	Glycerolipid metabolism Metabolic pathways
		BIVM-ERCC5	Unknown	—	Disgenet	Nucleotide excision repair
		EGR2	Unknown	—	Disgenet	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection +3 more
		EIF3J	Unknown	—	Disgenet	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
		ERCC5	Unknown	—	Disgenet	Nucleotide excision repair Formation of Incision Complex in GG-NER Dual Incision in GG-NER +1 more
		SETX	Unknown	—	Disgenet	Amyotrophic lateral sclerosis
		SLC19A3	Unknown	—	Disgenet	Vitamin digestion and absorption Vitamin B1 (thiamin) metabolism
		SMC1A	Unknown	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		TAPBPL	Unknown	—	Disgenet	—
		VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more
		ZFYVE27	Unknown	—	Disgenet	Endocytosis
		ZGRF1	Unknown	—	Disgenet	—
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE	C1858479	EIF3J	Unknown	—	Disgenet	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE	270700 C1849128 MESH:C536642	ZFYVE26	Unknown	11342696 17661097 18098276 19805727	CTD, Disgenet, HPO	—
SPASTIC PARAPLEGIA 17	C2931276	GNG3	Unknown	—	Disgenet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
SPASTIC PARAPLEGIA 17	C2931276	SON	Unknown	—	Disgenet	—
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE	C2749936 MESH:C567628	ERLIN2	Unknown	—	CTD, Disgenet	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE	611225	ERLIN2	Unknown	—	HPO	ABC-family proteins mediated transport Signaling by FGFR1 in disease Defective CFTR causes cystic fibrosis +1 more
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	C2931355	BICD2	Unknown	—	Disgenet	Viral life cycle - HIV-1 COPI-independent Golgi-to-ER retrograde traffic
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	C2931355	MAP4K5	Unknown	—	Disgenet	—
SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT	C5235139	KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE	C1835896 MESH:C563677	KIF1A	Unknown	—	CTD, Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	C1853251	ZFYVE27	Unknown	—	Disgenet	Endocytosis
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	C2677586	MCOLN1	Unknown	—	Disgenet	Calcium signaling pathway Lysosome TRP channels +1 more
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	C1866855	COL3A1	Unknown	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		FGG	Unknown	—	Disgenet	Complement and coagulation cascades Platelet activation Neutrophil extracellular trap formation +17 more
		GNAS	Unknown	—	Disgenet	Endocrine resistance Rap1 signaling pathway Calcium signaling pathway +58 more
		OFD1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PHF6	Unknown	—	Disgenet	ATP-dependent chromatin remodeling
		TCF4	Unknown	—	Disgenet	Myogenesis
		TRAPPC2	Unknown	—	Disgenet	COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	C3888209	CNNM2	Unknown	—	Disgenet	—
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	C2828721	EEF1A2	Unknown	—	Disgenet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE	614066 C3279738 OMIM:614066	AP4B1	Unknown	—	CTD, Disgenet, HPO	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE	614066 C3279738 OMIM:614066	DCLRE1B	Unknown	—	Disgenet	Fanconi Anemia Pathway
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE	612936	AP4M1	Unknown	—	HPO	Lysosome Lysosome Vesicle Biogenesis
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	613744 C3151056 OMIM:613744	AP4E1	Unknown	—	CTD, Disgenet, HPO	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE	614067 C3279743 OMIM:614067	AP4S1	Unknown	—	CTD, Disgenet, HPO	Lysosome Lysosome Vesicle Biogenesis
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	C1849115	MCOLN1	Unknown	—	Disgenet	Calcium signaling pathway Lysosome TRP channels +1 more
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	C1846564 607259 MESH:C564599	MUTYH	Unknown	—	Disgenet	Base excision repair Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine +2 more
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	C1846564 607259 MESH:C564599	SPG7	Unknown	—	CTD, Disgenet, HPO	Processing of SMDT1
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE	C3810160	REEP2	Unknown	—	Disgenet	Olfactory Signaling Pathway
SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT	615625 C5882669 OMIM:615625	REEP2	Unknown	—	CTD, Disgenet, HPO	Olfactory Signaling Pathway
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	616907 OMIM:616907	CAPN1	Unknown	—	CTD, HPO	Protein processing in endoplasmic reticulum Apoptosis Necroptosis +8 more
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE	617046 OMIM:617046	FARS2	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	617225 OMIM:617225	ATP13A2	Unknown	—	CTD, HPO	Ion transport by P-type ATPases
SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	C3809665 615491 OMIM:615491	SPG7	Unknown	—	Disgenet	Processing of SMDT1
SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	C3809665 615491 OMIM:615491	UCHL1	Unknown	—	CTD, Disgenet, HPO	Parkinson disease Pathways of neurodegeneration - multiple diseases UCH proteinases
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	C1863704	DNM1L	Unknown	—	Disgenet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	C1863704	NSD1	Unknown	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
SPASTIC PARAPLEGIA TYPE 7	99013 C3711370	SPG7	Unknown	17646629 20301286	Disgenet, Orphanet	Processing of SMDT1
SPASTIC PARAPLEGIA WITH PAGET DISEASE OF BONE SYNDROME	C4511969	VCP	Unknown	—	Disgenet	Mitophagy - animal Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis +14 more

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Spastic paraplegia

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