Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:Paralysis
go back to main search page
Accession:DOID:9005246 term browser browse the term
Definition:A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Synonyms:exact_synonym: Palsies;   Palsy;   Paralyses;   Plegia;   Plegias;   Todd Paralysis;   Todd's Paralysis;   Todds Paralysis
 primary_id: MESH:D010243;   RDO:0002342
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
Paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:11554173
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11554173
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:11554173
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Mog myelin oligodendrocyte glycoprotein JBrowse link 20 2,003,871 2,014,284 RGD:11554173
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:1599993
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:11554173
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 JBrowse link 3 119,258,189 119,347,084 RGD:11554173
G Unc45b unc-45 myosin chaperone B JBrowse link 10 70,262,340 70,290,445 RGD:11554173
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
alternating hemiplegia of childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
RGD:11554173
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11554173
RGD:8554872
RGD:11576279
Alternating Hemiplegia of Childhood 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:7240710
RGD:8554872
Alternating Hemiplegia of Childhood 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:7240710
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Cayler Cardiofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:11554173
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:11554173
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:1600402
RGD:8554872
RGD:7240710
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:7240710
RGD:8554872
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:11554173
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:8554872
RGD:7240710
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col25a1 collagen type XXV alpha 1 chain JBrowse link 2 235,515,364 235,705,448 RGD:13592920
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
RGD:13592920
G Phox2a paired-like homeobox 2a JBrowse link 1 166,893,734 166,898,252 RGD:13592920
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 RGD:13592920
Diabetic Gastroparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:13446417
distal hereditary motor neuronopathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc138 coiled-coil domain containing 138 JBrowse link 20 28,076,784 28,158,053 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Gcc2 GRIP and coiled-coil domain containing 2 JBrowse link 20 27,832,960 27,879,764 RGD:8554872
G Lims1 LIM zinc finger domain containing 1 JBrowse link 20 27,895,981 28,004,767 RGD:8554872
G LOC100910235 sulfotransferase 1C1-like JBrowse link 9 4,323,997 4,328,175 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 20
20		 28,027,054
28,365,538		 28,076,664
28,375,676		 RGD:8554872
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:7240710
RGD:8554872
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a JBrowse link 9 4,152,588 4,168,355 RGD:8554872
G Sult1c3 sulfotransferase family 1C member 3 JBrowse link 9 4,931,038 4,978,847 RGD:8554872
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:8554872
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb6 tubulin, beta 6 class V JBrowse link 18 63,130,542 63,140,181 RGD:8554872
RGD:7240710
facial paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547852
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
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
gastroparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
hemiplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cga glycoprotein hormones, alpha polypeptide JBrowse link 5 50,362,491 50,393,368 RGD:11554173
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
Hereditary Congenital Facial Paresis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 RGD:11554173
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxb1 homeo box B1 JBrowse link 10 84,214,358 84,215,812 RGD:7240710
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 Borcs7 BLOC-1 related complex subunit 7 JBrowse link 1 266,451,021 266,464,903 RGD:13592920
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 Mars1 methionyl-tRNA synthetase 1 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 Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 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 transcription factor 1 JBrowse link 3 47,677,720 47,685,902 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 Fa2h fatty acid 2-hydroxylase JBrowse link 19 43,545,380 43,596,788 RGD:7240710
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 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
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 Ankrd9 ankyrin repeat domain 9 JBrowse link 6 135,409,698 135,412,552 RGD:8554872
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
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 trafficking from ER to golgi regulator 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:7240710
RGD:8554872
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 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:7240710
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 Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
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
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:7240710
RGD:8554872
Inclusion Body Myopathy 3, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Myh2 myosin heavy chain 2 JBrowse link 10 53,711,895 53,738,164 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
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
Microcephaly with Spastic Quadriplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh12 protocadherin 12 JBrowse link 18 31,415,533 31,431,108 RGD:8554872
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
Oculomelic Amyoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
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 Ap5z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 12 14,161,998 14,175,997 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 Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 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
RGD:8554872
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
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710
progressive supranuclear palsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 4 98,648,513 98,709,695 RGD:11554173
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 10 98,707,160 98,823,054 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8158100
RGD:8158099
RGD:8158095
G Mobp myelin-associated oligodendrocyte basic protein JBrowse link 8 128,824,420 128,854,492 RGD:11554173
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552652
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657142
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655859
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:11554173
G Stx6 syntaxin 6 JBrowse link 13 72,804,218 72,850,757 RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687185
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:11554173
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
quadriplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792240
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Tbcd tubulin folding cofactor D JBrowse link 10 110,643,693 110,800,493 RGD:11554173
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694285
RGD:8694282
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:11554173
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 80, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubap1 ubiquitin-associated protein 1 JBrowse link 5 57,738,309 57,778,724 RGD:8554872
RGD:7240710
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 AND AXIAL HYPOTONIA, PROGRESSIVE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 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 15625
    Pathological Conditions, Signs and Symptoms 8039
      Signs and Symptoms 4691
        Neurologic Manifestations 3593
          Paralysis 217
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Respiratory Paralysis 0
            Vocal Cord Paralysis + 13
            Wells Jankovic Syndrome 0
            facial paralysis + 5
            gastroparesis + 2
            hemiplegia + 5
            ophthalmoplegia + 45
            paraplegia + 131
            pseudobulbar palsy + 0
            quadriplegia + 5
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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