ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia
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Accession:DOID:2476 term browser browse the term
Definition:A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Synonyms:exact_synonym: CMT with Pyramidal Features;   Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant;   French settlement disease;   HMSN 5;   HMSN Type V;   HMSN V;   HMSN V (Hereditary Motor and Sensory Neuropathy Type V);   Hereditary Motor And Sensory Neuropathy V;   Hereditary Motor Sensory Neuropathy with Pyramidal Signs;   Hereditary Motor and Sensory Neuropathy 5;   Hereditary Spastic Paraplegias;   Hereditary X Linked Recessive Spastic Paraplegia;   Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia;   Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant;   Strumpell-Lorrain disease;   familial spastic paraplegia;   hereditary spastic paraparesis;   type V hereditary motor and sensory neuropathy
 narrow_synonym: Autosomal Dominant Hereditary Spastic Paraplegia;   Autosomal Recessive Hereditary Spastic Paraplegia;   Dominant Spastic Paraplegia;   PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA;   Recessive Spastic Paraplegia;   X-linked hereditary spastic paraplegia
 primary_id: MESH:D015419
 alt_id: RDO:0000354
 xref: GARD:6637;   OMIM:PS303350
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434921
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:8554872
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:8554872
G Ap4b1 adaptor related protein complex 4 subunit beta 1 JBrowse link 2 206,293,679 206,305,705 RGD:8554872
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link 12 19,314,222 19,320,339 RGD:8554872
G Ap5b1 adaptor related protein complex 5 subunit beta 1 JBrowse link 1 220,948,318 220,952,349 RGD:8554872
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 12 14,161,998 14,175,997 RGD:9684952
RGD:8554872
G Arhgap9 Rho GTPase activating protein 9 JBrowse link 7 70,612,650 70,620,900 RGD:8554872
G Arsi arylsulfatase family, member I JBrowse link 18 56,180,089 56,186,068 RGD:8554872
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:1600602
RGD:8554872
G Cct5 chaperonin containing TCP1 subunit 5 JBrowse link 2 84,667,578 84,678,730 RGD:8554872
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:11554173
RGD:8554872
G Ddhd2 DDHD domain containing 2 JBrowse link 16 71,090,096 71,120,713 RGD:8554872
G Eif3j eukaryotic translation initiation factor 3, subunit J JBrowse link 3 113,976,687 113,998,925 RGD:8554872
G Ephb1 Eph receptor B1 JBrowse link 8 110,376,954 110,813,193 RGD:8554872
G Erlin2 ER lipid raft associated 2 JBrowse link 16 69,179,005 69,195,452 RGD:8554872
G Flrt1 fibronectin leucine rich transmembrane protein 1 JBrowse link 1 222,340,481 222,417,915 RGD:8554872
G Gad1 glutamate decarboxylase 1 JBrowse link 3 56,861,440 56,902,139 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:1624200
RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
RGD:12911231
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:13506824
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:8554872
G Macrod1 mono-ADP ribosylhydrolase 1 JBrowse link 1 222,310,916 222,451,485 RGD:8554872
G Mag myelin-associated glycoprotein JBrowse link 1 89,345,325 89,360,905 RGD:8554872
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 6 92,136,242 92,229,578 RGD:8554872
G Mars methionyl-tRNA synthetase JBrowse link 7 70,585,011 70,602,425 RGD:8554872
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Nipa1 NIPA magnesium transporter 1 JBrowse link 1 114,385,484 114,422,741 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:11554173
RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Rtn2 reticulon 2 JBrowse link 1 80,195,594 80,208,449 RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:8554872
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:8554872
G Spg21 SPG21 abhydrolase domain containing, maspardin JBrowse link 8 70,994,531 71,022,302 RGD:1556574
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tecpr2 tectonin beta-propeller repeat containing 2 JBrowse link 6 135,304,536 135,405,865 RGD:11554173
G Usp8 ubiquitin specific peptidase 8 JBrowse link 3 119,173,818 119,222,499 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Wdr48 WD repeat domain 48 JBrowse link 8 128,577,080 128,610,287 RGD:8554872
G Zfr zinc finger RNA binding protein JBrowse link 2 62,150,251 62,213,048 RGD:8554872
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872
G Zfyve27 zinc finger FYVE-type containing 27 JBrowse link 1 261,415,172 261,438,539 RGD:8554872
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
Fitzsimmons-Guilbert Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 JBrowse link 9 65,961,361 66,034,396 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:8554872
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:7240710
RGD:8554872
RGD:12859091
RGD:12859090
RGD:12793069
RGD:12793068
RGD:12793065
RGD:12793061
RGD:12793060
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 6 92,136,242 92,229,578 RGD:8554872
G Nipa1 NIPA magnesium transporter 1 JBrowse link 1 114,385,484 114,422,741 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Rtn2 reticulon 2 JBrowse link 1 80,195,594 80,208,449 RGD:8554872
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Zfyve27 zinc finger FYVE-type containing 27 JBrowse link 1 261,415,172 261,438,539 RGD:8554872
hereditary spastic paraplegia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
G Tbr1 T-box, brain, 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
hereditary spastic paraplegia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn2 reticulon 2 JBrowse link 1 80,195,594 80,208,449 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10402832
hereditary spastic paraplegia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erlin2 ER lipid raft associated 2 JBrowse link 16 69,179,005 69,195,452 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:7240710
RGD:8554872
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dstyk dual serine/threonine and tyrosine protein kinase JBrowse link 13 49,195,325 49,243,327 RGD:7240710
hereditary spastic paraplegia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 JBrowse link 7 70,439,273 70,459,556 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddhd1 DDHD domain containing 1 JBrowse link 15 19,963,639 20,032,263 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
RGD:12911228
RGD:12911224
hereditary spastic paraplegia 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfyve27 zinc finger FYVE-type containing 27 JBrowse link 1 261,415,172 261,438,539 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Fa2h fatty acid 2-hydroxylase JBrowse link 19 43,545,380 43,596,788 RGD:7240710
RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
hereditary spastic paraplegia 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:7240710
RGD:8554872
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 6 92,136,242 92,229,578 RGD:8554872
hereditary spastic paraplegia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Birc6 baculoviral IAP repeat-containing 6 JBrowse link 6 21,900,763 22,092,484 RGD:8554872
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit JBrowse link 6 22,296,128 22,316,894 RGD:8554872
G Ltbp1 latent transforming growth factor beta binding protein 1 JBrowse link 6 21,203,502 21,600,441 RGD:8554872
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
G Slc30a6 solute carrier family 30 member 6 JBrowse link 6 22,197,003 22,226,364 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:7240710
RGD:8554872
G Ttc27 tetratricopeptide repeat domain 27 JBrowse link 6 21,735,833 21,880,008 RGD:8554872
G Yipf4 Yip1 domain family, member 4 JBrowse link 6 22,126,870 22,138,286 RGD:8554872
hereditary spastic paraplegia 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
RGD:13208577
RGD:8554872
hereditary spastic paraplegia 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nt5c2 5'-nucleotidase, cytosolic II JBrowse link 1 266,652,966 266,782,935 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4b1 adaptor related protein complex 4 subunit beta 1 JBrowse link 2 206,293,679 206,305,705 RGD:7240710
RGD:8554872
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
hereditary spastic paraplegia 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 12 14,161,998 14,175,997 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tecpr2 tectonin beta-propeller repeat containing 2 JBrowse link 6 135,304,536 135,405,865 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add3 adducin 3 JBrowse link 1 273,854,195 273,961,982 RGD:8554872
RGD:7240710
G Ap4m1 adaptor related protein complex 4 subunit mu 1 JBrowse link 12 19,314,222 19,320,339 RGD:7240710
RGD:8554872
G Mcm7 minichromosome maintenance complex component 7 JBrowse link 12 19,306,615 19,313,877 RGD:8554872
hereditary spastic paraplegia 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:7240710
RGD:8554872
G Sppl2a signal peptide peptidase-like 2A JBrowse link 3 119,361,651 119,405,453 RGD:8554872
hereditary spastic paraplegia 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 6 72,461,977 72,502,717 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps37a VPS37A subunit of ESCRT-I JBrowse link 16 54,860,811 54,899,410 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddhd2 DDHD domain containing 2 JBrowse link 16 71,090,096 71,120,713 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 JBrowse link 2 236,414,131 236,431,650 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfg Trk-fused gene JBrowse link 11 46,180,189 46,206,723 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 5A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 JBrowse link 2 236,414,131 236,431,650 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:7240710
RGD:8554872
RGD:11554173
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:8554872
hereditary spastic paraplegia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:8554872
G Nipa1 NIPA magnesium transporter 1 JBrowse link 1 114,385,484 114,422,741 RGD:7240710
RGD:8554872
G Nipa2 NIPA magnesium transporter 2 JBrowse link 1 114,346,005 114,371,907 RGD:8554872
G Tubgcp5 tubulin, gamma complex associated protein 5 JBrowse link 1 114,186,853 114,222,516 RGD:8554872
hereditary spastic paraplegia 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 JBrowse link 1 187,770,160 187,779,675 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erlin1 ER lipid raft associated 1 JBrowse link 1 263,810,439 263,845,762 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 1 259,692,020 259,818,922 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
hereditary spastic paraplegia 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reep2 receptor accessory protein 2 JBrowse link 18 27,632,562 27,641,594 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt1c carnitine palmitoyltransferase 1c JBrowse link 1 100,955,094 100,970,579 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mag myelin-associated glycoprotein JBrowse link 1 89,345,325 89,360,905 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn1 calpain 1 JBrowse link 1 221,346,081 221,370,965 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:7240710
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
RGD:11056004
hereditary spastic paraplegia 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
RGD:7240710
MASA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483061
RGD:8554872
RGD:11570406
RGD:11064095
RGD:11554173
RGD:7240710
MAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg21 SPG21 abhydrolase domain containing, maspardin JBrowse link 8 70,994,531 71,022,302 RGD:7240710
RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp13a2 ATPase cation transporting 13A2 JBrowse link 5 159,512,208 159,531,631 RGD:8554872
RGD:7240710
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:7240710
RGD:8554872
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D-interacting substrate 220 JBrowse link 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a4 solute carrier family 1 member 4 JBrowse link 14 104,582,884 104,612,417 RGD:7240710
RGD:8554872
Troyer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:8554872
G Spart spartin JBrowse link 2 144,522,382 144,548,968 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          paraplegia 135
            hereditary spastic paraplegia 121
              3-methylglutaconic aciduria type 3 1
              Amyotrophic Dystonic Paraplegia 0
              Arena Syndrome 0
              Bahemuka Brown syndrome 0
              Fitzsimmons Walson Mellor Syndrome 0
              Fitzsimmons-Guilbert Syndrome 1
              Fitzsimmons-McLachlan-Gilbert syndrome 0
              Hereditary Spastic Paralysis, Infantile Onset Ascending 1
              Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 0
              MASA syndrome 1
              MAST syndrome 1
              Mental Retardation Spasticity Ectrodactyly 0
              Nakamura Osame syndrome 0
              Roy Maroteaux Kremp Syndrome 0
              SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 1
              SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 1
              SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
              SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
              Spastic Diplegia Infantile Type 0
              Spastic Paraplegia Epilepsy Mental Retardation 0
              Spastic Paraplegia Neuropathy Poikiloderma 0
              Spastic Paraplegia Type 5B, Recessive 0
              Spastic Paraplegia and Evans Syndrome 0
              Spastic Paraplegia with Associated Extrapyramidal Signs 0
              Spastic Paraplegia with Kallmann Syndrome 0
              Spastic Paraplegia with Myoclonic Epilepsy 0
              Spastic Paraplegia with Precocious Puberty 0
              Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
              Spastic Paraplegia, Optic Atrophy, and Dementia 0
              Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
              Troyer syndrome 2
              Volcke Soekarman Syndrome 0
              hereditary spastic paraplegia 10 11
              hereditary spastic paraplegia 11 11
              hereditary spastic paraplegia 12 1
              hereditary spastic paraplegia 13 1
              hereditary spastic paraplegia 14 0
              hereditary spastic paraplegia 15 1
              hereditary spastic paraplegia 16 0
              hereditary spastic paraplegia 17 2
              hereditary spastic paraplegia 18 1
              hereditary spastic paraplegia 19 0
              hereditary spastic paraplegia 2 2
              hereditary spastic paraplegia 23 1
              hereditary spastic paraplegia 24 0
              hereditary spastic paraplegia 25 0
              hereditary spastic paraplegia 26 1
              hereditary spastic paraplegia 27 0
              hereditary spastic paraplegia 28 1
              hereditary spastic paraplegia 29 0
              hereditary spastic paraplegia 30 1
              hereditary spastic paraplegia 31 1
              hereditary spastic paraplegia 32 0
              hereditary spastic paraplegia 33 1
              hereditary spastic paraplegia 34 0
              hereditary spastic paraplegia 35 5
              hereditary spastic paraplegia 36 0
              hereditary spastic paraplegia 37 0
              hereditary spastic paraplegia 38 0
              hereditary spastic paraplegia 39 2
              hereditary spastic paraplegia 3A 2
              hereditary spastic paraplegia 4 8
              hereditary spastic paraplegia 41 0
              hereditary spastic paraplegia 42 1
              hereditary spastic paraplegia 43 1
              hereditary spastic paraplegia 44 1
              hereditary spastic paraplegia 45 1
              hereditary spastic paraplegia 46 1
              hereditary spastic paraplegia 47 2
              hereditary spastic paraplegia 48 1
              hereditary spastic paraplegia 49 1
              hereditary spastic paraplegia 50 3
              hereditary spastic paraplegia 51 2
              hereditary spastic paraplegia 52 1
              hereditary spastic paraplegia 53 1
              hereditary spastic paraplegia 54 1
              hereditary spastic paraplegia 55 1
              hereditary spastic paraplegia 56 1
              hereditary spastic paraplegia 57 1
              hereditary spastic paraplegia 5A 5
              hereditary spastic paraplegia 6 4
              hereditary spastic paraplegia 61 1
              hereditary spastic paraplegia 62 1
              hereditary spastic paraplegia 63 1
              hereditary spastic paraplegia 64 1
              hereditary spastic paraplegia 7 7
              hereditary spastic paraplegia 72 1
              hereditary spastic paraplegia 73 1
              hereditary spastic paraplegia 74 1
              hereditary spastic paraplegia 75 1
              hereditary spastic paraplegia 76 1
              hereditary spastic paraplegia 77 1
              hereditary spastic paraplegia 8 1
              hereditary spastic paraplegia 9A 1
              hereditary spastic paraplegia 9B 1
              spastic ataxia 1 2
              spastic ataxia 2 2
              spastic ataxia 3 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          neurodegenerative disease 2536
            Nervous System Heredodegenerative Disorders 1609
              motor peripheral neuropathy 416
                hereditary spastic paraplegia 121
                  3-methylglutaconic aciduria type 3 1
                  Amyotrophic Dystonic Paraplegia 0
                  Arena Syndrome 0
                  Bahemuka Brown syndrome 0
                  Fitzsimmons Walson Mellor Syndrome 0
                  Fitzsimmons-Guilbert Syndrome 1
                  Fitzsimmons-McLachlan-Gilbert syndrome 0
                  Hereditary Spastic Paralysis, Infantile Onset Ascending 1
                  Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 0
                  MASA syndrome 1
                  MAST syndrome 1
                  Mental Retardation Spasticity Ectrodactyly 0
                  Nakamura Osame syndrome 0
                  Roy Maroteaux Kremp Syndrome 0
                  SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 1
                  SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 1
                  SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
                  SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY 1
                  Spastic Diplegia Infantile Type 0
                  Spastic Paraplegia Epilepsy Mental Retardation 0
                  Spastic Paraplegia Neuropathy Poikiloderma 0
                  Spastic Paraplegia Type 5B, Recessive 0
                  Spastic Paraplegia and Evans Syndrome 0
                  Spastic Paraplegia with Associated Extrapyramidal Signs 0
                  Spastic Paraplegia with Kallmann Syndrome 0
                  Spastic Paraplegia with Myoclonic Epilepsy 0
                  Spastic Paraplegia with Precocious Puberty 0
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  Spastic Paraplegia, Optic Atrophy, and Dementia 0
                  Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 0
                  Troyer syndrome 2
                  Volcke Soekarman Syndrome 0
                  hereditary spastic paraplegia 10 11
                  hereditary spastic paraplegia 11 11
                  hereditary spastic paraplegia 12 1
                  hereditary spastic paraplegia 13 1
                  hereditary spastic paraplegia 14 0
                  hereditary spastic paraplegia 15 1
                  hereditary spastic paraplegia 16 0
                  hereditary spastic paraplegia 17 2
                  hereditary spastic paraplegia 18 1
                  hereditary spastic paraplegia 19 0
                  hereditary spastic paraplegia 2 2
                  hereditary spastic paraplegia 23 1
                  hereditary spastic paraplegia 24 0
                  hereditary spastic paraplegia 25 0
                  hereditary spastic paraplegia 26 1
                  hereditary spastic paraplegia 27 0
                  hereditary spastic paraplegia 28 1
                  hereditary spastic paraplegia 29 0
                  hereditary spastic paraplegia 30 1
                  hereditary spastic paraplegia 31 1
                  hereditary spastic paraplegia 32 0
                  hereditary spastic paraplegia 33 1
                  hereditary spastic paraplegia 34 0
                  hereditary spastic paraplegia 35 5
                  hereditary spastic paraplegia 36 0
                  hereditary spastic paraplegia 37 0
                  hereditary spastic paraplegia 38 0
                  hereditary spastic paraplegia 39 2
                  hereditary spastic paraplegia 3A 2
                  hereditary spastic paraplegia 4 8
                  hereditary spastic paraplegia 41 0
                  hereditary spastic paraplegia 42 1
                  hereditary spastic paraplegia 43 1
                  hereditary spastic paraplegia 44 1
                  hereditary spastic paraplegia 45 1
                  hereditary spastic paraplegia 46 1
                  hereditary spastic paraplegia 47 2
                  hereditary spastic paraplegia 48 1
                  hereditary spastic paraplegia 49 1
                  hereditary spastic paraplegia 50 3
                  hereditary spastic paraplegia 51 2
                  hereditary spastic paraplegia 52 1
                  hereditary spastic paraplegia 53 1
                  hereditary spastic paraplegia 54 1
                  hereditary spastic paraplegia 55 1
                  hereditary spastic paraplegia 56 1
                  hereditary spastic paraplegia 57 1
                  hereditary spastic paraplegia 5A 5
                  hereditary spastic paraplegia 6 4
                  hereditary spastic paraplegia 61 1
                  hereditary spastic paraplegia 62 1
                  hereditary spastic paraplegia 63 1
                  hereditary spastic paraplegia 64 1
                  hereditary spastic paraplegia 7 7
                  hereditary spastic paraplegia 72 1
                  hereditary spastic paraplegia 73 1
                  hereditary spastic paraplegia 74 1
                  hereditary spastic paraplegia 75 1
                  hereditary spastic paraplegia 76 1
                  hereditary spastic paraplegia 77 1
                  hereditary spastic paraplegia 8 1
                  hereditary spastic paraplegia 9A 1
                  hereditary spastic paraplegia 9B 1
                  spastic ataxia 1 2
                  spastic ataxia 2 2
                  spastic ataxia 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.