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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebellar ataxia
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Accession:DOID:0050753 term browser browse the term
Definition:Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Synonyms:exact_synonym: Adiadochokinesis;   Cerebellar Ataxias;   Cerebellar Dysmetria;   Cerebellar Dysmetrias;   Cerebellar Hemiataxia;   Cerebellar Hemiataxias;   Cerebellar Incoordination;   Cerebellar Incoordinations;   Dysmetria;   Dysmetrias;   Hypermetria;   adiadochokineses;   hypermetrias
 narrow_synonym: Ataxia, cerebellar, juvenile to adolescent, RAB24-related;   Ataxia, cerebellar, neonatal;   Ataxia, cerebellar, neonatal, GRM1-related;   Ataxia, cerebellar, progressive early-onset;   Ataxia, cerebellar, progressive early-onset, SEL1L-related;   cerebellar ataxia, juvenile to adolescent;   neurodegenerative vacuolar storage disease
 primary_id: MESH:D002524
 alt_id: OMIA:000078;   OMIA:001692;   OMIA:001913;   OMIA:001954;   OMIA:002110;   RDO:0000422
For additional species annotation, visit the Alliance of Genome Resources.


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cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:13592920
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:13506824
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694192
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Ptrh2 peptidyl-tRNA hydrolase 2 JBrowse link 10 74,002,151 74,012,182 RGD:8554872
G Rfc1 replication factor C subunit 1 JBrowse link 14 44,627,528 44,702,205 RGD:11554173
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11073359
G Rpl27a ribosomal protein L27a JBrowse link 1 174,132,798 174,135,816 RGD:11554173
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:11554173
RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:11554173
G Spart spartin JBrowse link 2 144,522,382 144,548,968 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:8554872
RGD:13209009
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Setx senataxin JBrowse link 3 7,680,430 7,731,815 RGD:7240710
RGD:8554872
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 18 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:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwa3b von Willebrand factor A domain containing 3B JBrowse link 9 43,607,066 43,779,466 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg5 autophagy related 5 JBrowse link 20 49,301,783 49,393,147 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Fbxo5 F-box protein 5 JBrowse link 1 42,461,277 42,467,646 RGD:8554872
G Mtrf1l mitochondrial translational release factor 1-like JBrowse link 1 42,475,791 42,485,999 RGD:8554872
G Myct1 myc target 1 JBrowse link 1 42,121,572 42,132,131 RGD:8554872
G Rgs17 regulator of G-protein signaling 17 JBrowse link 1 42,491,566 42,587,735 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
RGD:13209001
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa7 cytochrome c oxidase assembly factor 7 JBrowse link 5 127,925,726 127,936,516 RGD:7240710
RGD:8554872
CAPOS Syndrome 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:11576280
RGD:8554872
RGD:7240710
Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:7240710
RGD:8554872
Cerebellar Ataxia and Hypogonadotropic Hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:7240710
RGD:8554872
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
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:11554173
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:13592920
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:11554173
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:7240710
RGD:8554872
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elf2 E74 like ETS transcription factor 2 JBrowse link 2 140,310,374 140,399,312 RGD:8554872
G Rfc1 replication factor C subunit 1 JBrowse link 14 44,627,528 44,702,205 RGD:7240710
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 JBrowse link 15 104,186,918 104,226,236 RGD:7240710
RGD:8554872
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:7240710
episodic ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:7240710
RGD:8554872
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:7240710
RGD:8554872
familial hemiplegic migraine 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:11554173
RGD:7240710
Friedreich ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:1598961
RGD:11554173
RGD:8554872
RGD:1582636
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490251
Friedreich ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872
Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:7240710
RGD:8554872
Machado-Joseph disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn3 ataxin 3 JBrowse link 6 125,817,420 125,853,461 RGD:1599419
RGD:11558010
RGD:5131159
RGD:11557998
RGD:11557997
RGD:8554872
RGD:7240710
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:6483072
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508762
G Slc18a2 solute carrier family 18 member A2 JBrowse link 1 280,397,831 280,457,968 RGD:5131159
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:5131159
Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:13592920
RGD:8554872
mitochondrial DNA depletion syndrome 7 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:7240710
RGD:8554872
nonprogressive cerebellar ataxia with mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadacl3 arylacetamide deacetylase-like 3 JBrowse link 5 162,323,373 162,332,014 RGD:8554872
G Aadacl4 arylacetamide deacetylase-like 4 JBrowse link 5 162,676,109 162,688,907 RGD:8554872
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:7240710
RGD:8554872
G Dhrs3 dehydrogenase/reductase 3 JBrowse link 5 162,809,090 162,843,385 RGD:8554872
G LOC691162 hypothetical protein LOC691162 JBrowse link 5 162,351,021 162,369,987 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Miip migration and invasion inhibitory protein JBrowse link 5 164,672,464 164,679,503 RGD:8554872
G Nid1 nidogen 1 JBrowse link 17 90,553,161 90,627,133 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Pramef12 PRAME family member 12 JBrowse link 5 162,378,442 162,388,786 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:8554872
G Smyd3 SET and MYND domain containing 3 JBrowse link 13 97,330,120 97,807,813 RGD:8554872
G Tnfrsf1b TNF receptor superfamily member 1B JBrowse link 5 163,136,390 163,167,299 RGD:8554872
G Tnfrsf8 TNF receptor superfamily member 8 JBrowse link 5 163,186,349 163,231,578 RGD:8554872
G Vps13d vacuolar protein sorting 13 homolog D JBrowse link 5 162,891,451 163,119,239 RGD:8554872
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:7240710
RGD:8554872
Spinocerebellar Ataxia 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 JBrowse link 2 123,329,954 123,467,574 RGD:7240710
RGD:8554872
Spinocerebellar Ataxia 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:8554872
RGD:7240710
spinocerebellar ataxia 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
RGD:7240710
spinocerebellar ataxia 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat2 FAT atypical cadherin 2 JBrowse link 10 40,583,025 40,682,598 RGD:8554872
RGD:7240710
G Slc36a1 solute carrier family 36 member 1 JBrowse link 10 40,538,013 40,573,304 RGD:8554872
spinocerebellar ataxia 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pld3 phospholipase D family, member 3 JBrowse link 1 84,339,269 84,361,686 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pum1 pumilio RNA-binding family member 1 JBrowse link 5 148,781,239 148,911,776 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
spinocerebellar ataxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn1 ataxin 1 JBrowse link 17 19,160,986 19,533,814 RGD:8554872
RGD:7240710
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:7240710
spinocerebellar ataxia type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn10 ataxin 10 JBrowse link 7 126,228,416 126,351,728 RGD:7240710
spinocerebellar ataxia type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttbk2 tau tubulin kinase 2 JBrowse link 3 112,677,932 112,789,615 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta JBrowse link 18 36,985,709 37,421,383 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnc3 potassium voltage-gated channel subfamily C member 3 JBrowse link 1 100,593,453 100,607,874 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6480683
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6480871
G Setmar SET domain and mariner transposase fusion gene JBrowse link 4 140,092,346 140,104,495 RGD:8554872
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:8554872
spinocerebellar ataxia type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1b ATP synthase F1 subunit beta JBrowse link 7 2,504,708 2,511,748 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Hspa5 heat shock protein family A (Hsp70) member 5 JBrowse link 3 13,838,304 13,842,763 RGD:11554173
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:11554173
G Hyou1 hypoxia up-regulated 1 JBrowse link 8 48,699,796 48,711,912 RGD:11554173
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:11554173
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:11554173
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:7240710
RGD:8554872
RGD:9681730
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:7240710
RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef2 eukaryotic translation elongation factor 2 JBrowse link 7 11,401,501 11,406,771 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:7240710
RGD:8554872
RGD:11554173
spinocerebellar ataxia type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
RGD:11534993
RGD:11532678
RGD:11532675
RGD:11532674
RGD:11532673
RGD:11532671
spinocerebellar ataxia type 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:7240710
RGD:8554872
RGD:11554173
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
spinocerebellar ataxia type 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bean1 brain expressed, associated with NEDD4, 1 JBrowse link 19 947,862 993,467 RGD:8554872
RGD:7240710
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:8554872
spinocerebellar ataxia type 34 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
spinocerebellar ataxia type 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:7240710
spinocerebellar ataxia type 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl5 ELOVL fatty acid elongase 5 JBrowse link 8 85,220,941 85,287,449 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:7240710
spinocerebellar ataxia type 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          hereditary ataxia 186
            cerebellar ataxia 169
              3-methylglutaconic aciduria type 5 1
              Benign Cerebellar Ataxia with Thermoanalgesia 0
              Brachydactyly-Nystagmus-Cerebellar Ataxia 0
              Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
              CAPOS Syndrome 1
              CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1
              CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 2
              CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
              Cayman type cerebellar ataxia 1
              Cerebellar Ataxia Ectodermal Dysplasia 0
              Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
              Cerebellar Ataxia and Hypogonadotropic Hypogonadism 1
              Cerebellar Ataxia and Neurosensory Deafness 0
              Cerebellar Hypoplasia with Endosteal Sclerosis 1
              Cerebellofaciodental Syndrome 1
              Cerebelloparenchymal Disorder II 0
              Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 1
              Furukawa Takagi Nakao Syndrome 0
              Gillespie Syndrome 2
              Harding Ataxia 0
              Herrmann Syndrome 0
              ITM2B-related cerebral amyloid angiopathy 2 1
              Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
              Marinesco-Sjogren syndrome 1
              Myelocerebellar Disorder 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Neuhauser Eichner Opitz Syndrome 0
              Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
              ataxia with oculomotor apraxia type 1 2
              autosomal dominant cerebellar ataxia + 63
              autosomal recessive cerebellar ataxia + 58
              episodic ataxia type 5 1
              episodic ataxia type 6 1
              familial hemiplegic migraine 1 1
              nonprogressive cerebellar ataxia with mental retardation 16
              short-rib thoracic dysplasia 9 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                Ataxia 300
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      3-methylglutaconic aciduria type 5 1
                      Benign Cerebellar Ataxia with Thermoanalgesia 0
                      Brachydactyly-Nystagmus-Cerebellar Ataxia 0
                      Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                      CAPOS Syndrome 1
                      CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1
                      CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 2
                      CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
                      Cayman type cerebellar ataxia 1
                      Cerebellar Ataxia Ectodermal Dysplasia 0
                      Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
                      Cerebellar Ataxia and Hypogonadotropic Hypogonadism 1
                      Cerebellar Ataxia and Neurosensory Deafness 0
                      Cerebellar Hypoplasia with Endosteal Sclerosis 1
                      Cerebellofaciodental Syndrome 1
                      Cerebelloparenchymal Disorder II 0
                      Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 1
                      Furukawa Takagi Nakao Syndrome 0
                      Gillespie Syndrome 2
                      Harding Ataxia 0
                      Herrmann Syndrome 0
                      ITM2B-related cerebral amyloid angiopathy 2 1
                      Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
                      Marinesco-Sjogren syndrome 1
                      Myelocerebellar Disorder 0
                      Myoclonus, Cerebellar Ataxia, and Deafness 0
                      Neuhauser Eichner Opitz Syndrome 0
                      Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 0
                      ataxia with oculomotor apraxia type 1 2
                      autosomal dominant cerebellar ataxia + 63
                      autosomal recessive cerebellar ataxia + 58
                      episodic ataxia type 5 1
                      episodic ataxia type 6 1
                      familial hemiplegic migraine 1 1
                      nonprogressive cerebellar ataxia with mental retardation 16
                      short-rib thoracic dysplasia 9 with or without polydactyly 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.