Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10	100991	KIF5A	Unknown	21623771	Orphanet	Endocytosis Dopaminergic synapse Motor proteins +12 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12	100993	RTN2	Unknown	22232211	Orphanet	—
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12	100993	UBAP1	Unknown	32934340	Orphanet	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13	100994	HSPD1	Unknown	1189812	Orphanet	RNA degradation Type I diabetes mellitus Legionellosis +4 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17	100998	BSCL2	Unknown	14981520	Orphanet	—
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3	100984	ATL1	Unknown	11685207	Orphanet	—
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31	101011	REEP1	Unknown	22703882	Orphanet	Olfactory Signaling Pathway
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37	171612	KPNA3	Unknown	34564892	Orphanet	Nucleocytoplasmic transport Salmonella infection Chemical carcinogenesis - receptor activation +2 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4	100985	SPAST	Unknown	17895902	Orphanet	Sealing of the nuclear envelope (NE) by ESCRT-III
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42	171863	SLC33A1	Unknown	19061983	Orphanet	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Transport of vitamins, nucleosides, and related molecules +1 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6	100988	NIPA1	Unknown	14508710 15643603	Orphanet	Miscellaneous transport and binding events
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73	444099 C5568981	CPT1C	Unknown	25751282	Disgenet, Orphanet	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway +6 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73	444099 C5568981	GPT2	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Metabolic pathways +4 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8	100989	WASHC5	Unknown	17160902	Orphanet	Endocytosis
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 80	631068 C5816771	UBAP1	Unknown	30929741	Disgenet, Orphanet	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A	447753 C5568978	ALDH18A1	Unknown	26026163 26297558	Disgenet, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A	447753 C5568978	FAR1	Unknown	—	Disgenet	Peroxisome Wax biosynthesis
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9B	447757 C5568979	ALDH18A1	Unknown	26026163	Disgenet, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11	2822	SPG11	Unknown	17322883 19105190	Orphanet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20	101000	SPART	Unknown	12134148 20437587	Orphanet	Endocytosis
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21	101001	SPG21	Unknown	—	Orphanet	Endocytosis
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23	101003	DSTYK	Unknown	28157540	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23	101003	SPG23	Unknown	—	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 26	101006	B4GALNT1	Unknown	23746551	Orphanet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28	101008	DDHD1	Unknown	23176821	Orphanet	Synthesis of PA
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35	171629	FA2H	Unknown	20104589	Orphanet	Sphingolipid de novo biosynthesis
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39	139480	PNPLA6	Unknown	18313024	Orphanet	Glycerophospholipid metabolism Glycerophospholipid catabolism
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43	320370	C19ORF12	Unknown	23857908	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44	320401	GJC2	Unknown	19056803	Orphanet	Gap junction assembly
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 45	320396	NT5C2	Unknown	24482476	Orphanet	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46	320391	GBA2	Unknown	23332916	Orphanet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48	306511	AP5Z1	Unknown	20613862	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53	319199	VPS37A	Unknown	22717650	Orphanet	Endocytosis Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins +2 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54	320380	DDHD2	Unknown	23176823	Orphanet	Synthesis of PA
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55	320375	MTRFR	Unknown	23188110	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56	320411	CYP2U1	Unknown	23176821	Orphanet	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57	431329	TFG	Unknown	23479643	Orphanet	Pathways in cancer Thyroid cancer COPII-mediated vesicle transport
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59	401795 C4750857 MONDO:0018416	USP8	Unknown	24482476	Disgenet, GWAS catalog, Orphanet	Mitophagy - animal Endocytosis Cushing syndrome +4 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 5A	100986	CYP7B1	Unknown	—	Orphanet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60	401800 C5190589 MONDO:0018417	WDR48	Unknown	24482476	Disgenet, GWAS catalog, Orphanet	Fanconi anemia pathway Recognition of DNA damage by PCNA-containing replication complex Ub-specific processing proteases +2 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61	401780	ARL6IP1	Unknown	24482476	Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62	401785	ERLIN1	Unknown	24482476	Orphanet	ABC-family proteins mediated transport Defective CFTR causes cystic fibrosis
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63	401805	AMPD2	Unknown	24482476	Orphanet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64	401810	ENTPD1	Unknown	24482476	Orphanet	Purine metabolism Pyrimidine metabolism Metabolic pathways +4 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66	401815 C5190590 MONDO:0018418	ARSI	Unknown	24482476	Disgenet, GWAS catalog, Orphanet	Glycosphingolipid metabolism The activation of arylsulfatases
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67	401820 C4707829 MONDO:0018419	PGAP1	Unknown	24482476	Disgenet, Orphanet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Attachment of GPI anchor to uPAR
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69	401830 C5190577 MONDO:0018421	RAB3GAP2	Unknown	24482476	Disgenet, Orphanet	COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70	C4749431 401835 MONDO:0018422	ARHGAP9	Unknown	—	Disgenet	Rho GTPase cycle Neutrophil degranulation
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70	C4749431 401835 MONDO:0018422	MARS1	Unknown	24482476	CTD, Disgenet, Orphanet	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71	401840 C5190578 MONDO:0018423	ZFR	Unknown	24482476	Disgenet, GenCC, Orphanet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74	468661 C5568837	IBA57	Unknown	25609768	Orphanet, Disgenet	—
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75	459056	MAG	Unknown	26179919	Orphanet	Cell adhesion molecules Axonal growth inhibition (RHOA activation) Basigin interactions
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B	447760 C5568980	ALDH18A1	Unknown	26026163	Disgenet, Orphanet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
COMPLEX HEREDITARY SPASTIC PARAPLEGIA	MONDO:0015150	B4GALNT1	Unknown	15635080 23746551 24103911 24283893 35775650	ClinGen, Disgenet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
		DSTYK	Unknown	28157540	ClinGen, GWAS catalog	—
		ENTPD1	Unknown	24482476 28742222 29691679 30652007 33771085 35471564 35758610	ClinGen, Disgenet	Purine metabolism Pyrimidine metabolism Metabolic pathways +4 more
		GBA2	Unknown	20593214 23332916 23332917 24252062 24337409	ClinGen, Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		MAG	Unknown	26179919 27606346 32629324 7539694	CTD, ClinGen	Cell adhesion molecules Axonal growth inhibition (RHOA activation) Basigin interactions
		NT5C2	Unknown	24482476 28327087 28884889 29123918 32153630	ClinGen, GWAS catalog	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more
		VPS37A	Unknown	22717650 23246293	ClinGen, GWAS catalog	Endocytosis Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins +2 more
SPASTIC PARAPARESIS-CATARACTS-SPEECH DELAY SYNDROME	615938 MONDO:0036212	FAR1	Unknown	33239752	GWAS catalog, Orphanet	Peroxisome Wax biosynthesis
SPASTIC PARAPLEGIA	C0037772	ATL1	Causal	—	Disgenet	—
		B4GALNT1	Causal	—	Disgenet	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
		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
		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
		KIF5A	Causal	—	Disgenet	Endocytosis Dopaminergic synapse Motor proteins +12 more
		MTRFR	Causal	—	Disgenet	—
		NIPA1	Causal	—	Disgenet	Miscellaneous transport and binding events
		REEP1	Causal	—	Disgenet	Olfactory Signaling Pathway
		RTN2	Causal	—	Disgenet	—
		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
		AP5Z1	Unknown	—	Disgenet	—
		ARSI	Unknown	—	Disgenet	Glycosphingolipid metabolism The activation of arylsulfatases
		CPT1C	Unknown	—	Disgenet	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway +6 more
		HSPD1	Unknown	—	Disgenet	RNA degradation Type I diabetes mellitus Legionellosis +4 more
		PNPLA6	Unknown	—	Disgenet	Glycerophospholipid metabolism Glycerophospholipid catabolism
		WASHC5	Unknown	—	Disgenet	Endocytosis
SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT	604187 C1858712 MESH:C537482	KIF5A	Unknown	—	CTD, Disgenet, HPO	Endocytosis Dopaminergic synapse Motor proteins +12 more
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE	604360 C1858479 MESH:C537483	SPG11	Unknown	17322883 17717710 18067136 19194956	CTD, Disgenet, HPO	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT	604805 C1858106 MESH:C537484	RTN2	Unknown	—	CTD, Disgenet, HPO	—
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT	604805 C1858106 MESH:C537484	UBAP1	Unknown	—	Disgenet	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT	605280 C1854467 MESH:C537485	HSPD1	Unknown	18571143	CTD, Disgenet, HPO	RNA degradation Type I diabetes mellitus Legionellosis +4 more
SPASTIC PARAPLEGIA 17	C2931276 MESH:C536644	BSCL2	Unknown	—	CTD, Disgenet	—
SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT	270685	BSCL2	Unknown	—	HPO	—
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE	275900 MESH:C536858	SPART	Unknown	—	CTD, HPO	Endocytosis
SPASTIC PARAPLEGIA 23	C0796019 MESH:C536859	DSTYK	Unknown	—	CTD, Disgenet	—
SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE	270750	DSTYK	Unknown	—	HPO	—
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE	609195 C1836632 MESH:C536862	B4GALNT1	Unknown	—	CTD, Disgenet, HPO	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways +1 more
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE	609340 C1836295 MESH:C563732	DDHD1	Unknown	15786464 23176821	CTD, Disgenet, HPO	Synthesis of PA
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	182600 C2931355 MESH:C536864	ATL1	Unknown	—	CTD, Disgenet, HPO	—
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	610250 C1853247 MESH:C565210	REEP1	Unknown	—	CTD, Disgenet, HPO	Olfactory Signaling Pathway
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION	612319 OMIM:612319	FA2H	Unknown	—	CTD, HPO	Sphingolipid de novo biosynthesis
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT	C2936880	KPNA3	Unknown	—	Disgenet	Nucleocytoplasmic transport Salmonella infection Chemical carcinogenesis - receptor activation +2 more
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	612020 C2677586 MESH:C567433	PNPLA6	Unknown	—	CTD, Disgenet, HPO	Glycerophospholipid metabolism Glycerophospholipid catabolism
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT	182601 C1866855 MESH:C536865	SPAST	Unknown	10610178 10699187 11309678 11843700 16055926 18701882 36452170 37251230 37473796 38145127 40019011	CTD, Disgenet, HPO	Sealing of the nuclear envelope (NE) by ESCRT-III
SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT	612539 C2675528 MESH:C567262	SLC33A1	Unknown	—	CTD, Disgenet, HPO	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Transport of vitamins, nucleosides, and related molecules +1 more
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE	615043 C2680446 OMIM:615043	C19ORF12	Unknown	—	Disgenet, HPO, CTD	—
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE	613206 C2750784 MESH:C567707	GJC2	Unknown	—	CTD, Disgenet, HPO	Gap junction assembly
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	613162 C3888209 OMIM:613162	NT5C2	Unknown	—	CTD, Disgenet, HPO	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +4 more
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE	614409 C2828721 OMIM:614409	GBA2	Unknown	—	CTD, Disgenet, HPO	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE	C3279738	WASHC5	Unknown	—	Disgenet	Endocytosis
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	613647 C3150901 OMIM:613647	AP5Z1	Unknown	—	CTD, Disgenet, HPO	—
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE	614898 C3539494 OMIM:614898	VPS37A	Unknown	—	CTD, Disgenet, HPO	Endocytosis Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins +2 more
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	615033 C3539495 OMIM:615033	DDHD2	Unknown	—	CTD, Disgenet, HPO	Synthesis of PA
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE	615035 C3539506	MTRFR	Unknown	—	Disgenet, HPO	—
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	C3539507	CYP2U1	Unknown	—	Disgenet	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM	615030 OMIM:615030	CYP2U1	Unknown	—	CTD, HPO	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE	615658 C3714897 OMIM:615658	TFG	Unknown	—	CTD, Disgenet, HPO	Pathways in cancer Thyroid cancer COPII-mediated vesicle transport
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	C1849115 270800 OMIM:270800	ALDH18A1	Unknown	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		C19ORF12	Unknown	—	Disgenet	—
		CYP2U1	Unknown	23176821	Disgenet	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
		CYP7B1	Unknown	—	CTD, Disgenet, HPO	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
		GBA2	Unknown	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	600363 C1838192 MESH:C536866	NIPA1	Unknown	—	CTD, Disgenet, HPO	Miscellaneous transport and binding events
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE	615685 C3810294 OMIM:615685	ARL6IP1	Unknown	—	CTD, Disgenet, HPO	—
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE	615681 C4284588 OMIM:615681	ERLIN1	Unknown	—	CTD, Disgenet, HPO	ABC-family proteins mediated transport Defective CFTR causes cystic fibrosis
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE	615686 C3810295 OMIM:615686	AMPD2	Unknown	—	CTD, Disgenet, HPO	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE	615683 C3810289 OMIM:615683	ENTPD1	Unknown	—	CTD, Disgenet, HPO	Purine metabolism Pyrimidine metabolism Metabolic pathways +4 more
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 73, AUTOSOMAL DOMINANT	616282 OMIM:616282	CPT1C	Unknown	—	CTD, HPO	Fatty acid degradation Fatty acid metabolism PPAR signaling pathway +6 more
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE	616451 OMIM:616451	IBA57	Unknown	—	CTD, HPO	—
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE	616680 C4225250 OMIM:616680	MAG	Unknown	—	CTD, Disgenet, HPO	Cell adhesion molecules Axonal growth inhibition (RHOA activation) Basigin interactions
SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	603563 C1863704	WASHC5	Unknown	—	Disgenet, HPO	Endocytosis
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 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 9, AUTOSOMAL DOMINANT	C1832669 MESH:C536868	ALDH18A1	Unknown	—	CTD, Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT	601162	ALDH18A1	Unknown	—	HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE	616586 OMIM:616586	ALDH18A1	Unknown	—	CTD, HPO	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
SPASTIC PARAPLEGIA TYPE 8	MESH:C580458	WASHC5	Unknown	—	CTD	Endocytosis

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Spastic paraplegia

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