ONTOLOGY REPORT - ANNOTATIONS


Term:paraplegia
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Accession:DOID:607 term browser browse the term
Definition:Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Synonyms:exact_synonym: Ataxic Paraplegia;   Ataxic Paraplegias;   Cerebral Paraplegia;   Cerebral Paraplegias;   Flaccid Paraplegia;   Flaccid Paraplegias;   Paralysis, Legs;   Paralysis, Lower Extremities;   Paralysis, Lower Limbs;   Paraplegia, lower;   Paraplegias;   Spastic Paraplegia;   Spastic Paraplegias;   Spinal Paraplegia;   Spinal Paraplegias
 primary_id: MESH:D010264;   RDO:0006289
 xref: GARD:7327
For additional species annotation, visit the Alliance of Genome Resources.


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paraplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:8554872
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:5509082
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:8554872
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 6 72,461,977 72,502,717 RGD:8554872
G Arsi arylsulfatase family, member I JBrowse link 18 56,180,089 56,186,068 RGD:8554872
G Atg7 autophagy related 7 JBrowse link 4 146,570,113 146,777,093 RGD:11557990
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 JBrowse link 7 70,439,273 70,459,556 RGD:8554872
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11557990
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:8554872
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
G Erlin2 ER lipid raft associated 2 JBrowse link 16 69,179,005 69,195,452 RGD:8554872
G Fa2h fatty acid 2-hydroxylase JBrowse link 19 43,545,380 43,596,788 RGD:8554872
G Foxo4 forkhead box O4 JBrowse link X 71,155,284 71,162,158 RGD:5509082
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:8554872
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5509577
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 Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 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 Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:11554173
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:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 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 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
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
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars aspartyl-tRNA synthetase JBrowse link 13 45,074,067 45,127,815 RGD:7240710
RGD:8554872
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
SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 RGD:8554872
RGD:7240710
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 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        central nervous system disease 6945
          paraplegia 135
            Brown-Sequard syndrome 0
            Fryns Macrocephaly 0
            Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
            Mental Retardation with Spastic Paraplegia 0
            Optic Atrophy Spastic Paraplegia Syndrome 0
            SPOAN syndrome 1
            Spastic Paraplegia, Ataxia, and Mental Retardation 0
            hereditary spastic paraplegia + 121
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        Neurologic Manifestations 3383
          Paralysis 218
            paraplegia 135
              Brown-Sequard syndrome 0
              Fryns Macrocephaly 0
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              Mental Retardation with Spastic Paraplegia 0
              Optic Atrophy Spastic Paraplegia Syndrome 0
              SPOAN syndrome 1
              Spastic Paraplegia, Ataxia, and Mental Retardation 0
              hereditary spastic paraplegia + 121
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.