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ONTOLOGY REPORT - ANNOTATIONS
Term:Ataxia
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Accession:DOID:9004866 term browser browse the term
Definition:Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Synonyms:exact_synonym: Appendicular Ataxia;   Appendicular Ataxias;   Ataxias;   Ataxy;   Coordination Impairment;   Coordination Impairments;   Coordination Lack;   Dyscoordination;   Dyssynergia;   Incoordination;   Incoordinations;   Lack of Coordination;   Limb Ataxia;   Limb Ataxias;   Motor Ataxia;   Motor Ataxias;   Rubral Tremor;   Rubral Tremors;   Sensory Ataxia;   Sensory Ataxias;   Truncal Ataxia;   Truncal Ataxias
 primary_id: MESH:D001259;   RDO:0000325
For additional species annotation, visit the Alliance of Genome Resources.

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Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:11554173
G Arcn1 archain 1 JBrowse link 8 49,051,257 49,075,861 RGD:11554173
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8632994
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:10054423
RGD:8554872
RGD:11554173
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:11554173
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:11554173
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:734780
G Cntn1 contactin 1 JBrowse link 7 133,290,606 133,588,314 RGD:734798
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:734813
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Egr3 early growth response 3 JBrowse link 15 51,756,683 51,762,080 RGD:11554173
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:11554173
G Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 JBrowse link 14 39,154,072 39,230,994 RGD:11554173
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482816
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490257
RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694191
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:1302554
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:2324615
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:11554173
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:11554173
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:1600430
G Uroc1 urocanate hydratase 1 JBrowse link 4 122,244,744 122,276,357 RGD:11554173
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
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Ataxia and Polyneuropathy, Adult-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 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, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 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 dominant sensory ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:7240710
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 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
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 subunit alpha 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
Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 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
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
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 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
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
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:11554173
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:7240710
RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 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
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
COACH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535946
RGD:11535944
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abi1 abl-interactor 1 JBrowse link 17 89,951,662 90,033,334 RGD:8554872
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
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 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
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:734674
RGD:8554872
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:8554872
episodic ataxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:7240710
RGD:8554872
RGD:10047237
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures RGD:10047237
episodic ataxia type 2 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:1358446
RGD:8554872
RGD:11554173
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
Erythrokeratodermia with Ataxia 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: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
familial isolated deficiency of vitamin E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:11554173
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:7240710
RGD:8554872
RGD:11554173
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:7240710
RGD:12050151
RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655858
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
Gait Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:11554173
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 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
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872
Gordon Holmes syndrome 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
hereditary ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:13592920
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
RGD:7240710
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctbp1 C-terminal binding protein 1 JBrowse link 14 82,762,109 82,789,350 RGD:8554872
RGD:7240710
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 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
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Leukoencephalopathy with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 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 Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msto1 misato mitochondrial distribution and morphology regulator 1 JBrowse link 2 188,212,211 188,216,482 RGD:8554872
RGD:7240710
Myokymia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:8554872
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock3 dedicator of cyto-kinesis 3 JBrowse link 8 115,627,282 115,982,260 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhps deoxyhypusine synthase JBrowse link 19 26,184,665 26,188,755 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
optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 20 48,881,124 48,924,921 RGD:8554872
RGD:7240710
Partington syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565843
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd12 abhydrolase domain containing 12 JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flvcr1 FLVCR heme transporter 1 JBrowse link 13 109,624,167 109,629,609 RGD:7240710
RGD:8554872
G Flvcr2 FLVCR heme transporter 2 JBrowse link 6 109,617,348 109,681,495 RGD:8554872
primary coenzyme Q10 deficiency 1 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 Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:7240710
RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:11554173
RGD:8554872
primary coenzyme Q10 deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:7240710
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
primary coenzyme Q10 deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:7240710
RGD:8554872
primary coenzyme Q10 deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:7240710
RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872
primary coenzyme Q10 deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cercam cerebral endothelial cell adhesion molecule JBrowse link 3 8,421,116 8,444,743 RGD:8554872
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Coq4 coenzyme Q4 JBrowse link 3 8,349,386 8,357,719 RGD:7240710
RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
G Golga2 golgin A2 JBrowse link 3 11,317,328 11,337,569 RGD:8554872
G Lcn2 lipocalin 2 JBrowse link 3 11,414,189 11,417,534 RGD:8554872
G Mir2964 microRNA 2964 JBrowse link 3 8,407,427 8,407,526 RGD:8554872
G Odf2 outer dense fiber of sperm tails 2 JBrowse link 3 8,449,733 8,495,764 RGD:8554872
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog JBrowse link 3 11,408,076 11,410,907 RGD:8554872
G Slc27a4 solute carrier family 27 member 4 JBrowse link 3 8,363,937 8,376,858 RGD:8554872
G Swi5 SWI5 homologous recombination repair protein JBrowse link 3 11,307,981 11,317,049 RGD:8554872
G Trub2 TruB pseudouridine synthase family member 2 JBrowse link 3 8,338,479 8,348,746 RGD:8554872
G Urm1 ubiquitin related modifier 1 JBrowse link 3 8,389,024 8,405,868 RGD:8554872
primary coenzyme Q10 deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:8554872
RGD:7240710
progressive myoclonus epilepsy 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
RGD:7240710
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
Sensory Ataxia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 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
spastic ataxia 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:11532672
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 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 ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
spastic ataxia 5 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
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 1 211,922,389 211,923,929 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chp1 calcineurin-like EF-hand protein 1 JBrowse link 3 111,354,506 111,389,998 RGD:7240710
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
Spinocerebellar Ataxia with Epilepsy 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
Spinocerebellar Ataxia, Autosomal Recessive 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 17 42,229,667 42,241,025 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia, Autosomal Recessive 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia, Autosomal Recessive 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap2 ganglioside-induced differentiation-associated-protein 2 JBrowse link 2 202,470,485 202,526,849 RGD:7240710
RGD:8554872
Spinocerebellar Ataxia, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:8554872
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:7240710
RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Nhsl2 NHS-like 2 JBrowse link X 71,895,202 71,980,019 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
Spinocerebellar Ataxias 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:11554173
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
RGD:11554173
G Atxn1 ataxin 1 JBrowse link 17 19,160,986 19,533,814 RGD:11554173
G Atxn10 ataxin 10 JBrowse link 7 126,228,416 126,351,728 RGD:1599410
G Atxn1l ataxin 1-like JBrowse link 19 41,932,356 41,939,456 RGD:11554173
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:11554173
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:11554173
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358570
RGD:11554173
RGD:10054466
RGD:10054421
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:11554173
G Casp7 caspase 7 JBrowse link 1 277,190,557 277,242,779 RGD:5684537
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:11554173
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:11554173
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:11554173
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Elovl5 ELOVL fatty acid elongase 5 JBrowse link 8 85,220,941 85,287,449 RGD:11554173
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Gfi1 growth factor independent 1 transcriptional repressor JBrowse link 14 3,058,035 3,073,332 RGD:11554173
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:11554173
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:11554173
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Kat2a lysine acetyltransferase 2A JBrowse link 10 88,611,586 88,619,558 RGD:9590239
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:11554173
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:6480499
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:8554872
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta JBrowse link 18 36,985,709 37,421,383 RGD:5686297
RGD:11554173
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:737790
RGD:8554872
RGD:11554173
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:11554173
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:11554173
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:11554173
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:11554173
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
RGD:11554173
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:11554173
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:11554173
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:5684014
RGD:5684015
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Tdp2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 17 42,229,667 42,241,025 RGD:11554173
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
RGD:11554173
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 JBrowse link 2 123,329,954 123,467,574 RGD:11554173
G Ttbk2 tau tubulin kinase 2 JBrowse link 3 112,677,932 112,789,615 RGD:11554173
RGD:8554872
G Tubb6 tubulin, beta 6 class V JBrowse link 18 63,130,542 63,140,181 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:11554173
G Vwa3b von Willebrand factor A domain containing 3B JBrowse link 9 43,607,066 43,779,466 RGD:11554173
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:11554173
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872
Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adprs ADP-ribosylserine hydrolase JBrowse link 5 144,336,312 144,341,586 RGD:8554872
RGD:7240710
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:1598600
RGD:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Pathological Conditions, Signs and Symptoms 8019
      Signs and Symptoms 4646
        Neurologic Manifestations 3548
          Dyskinesias 716
            Ataxia 307
              ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 0
              Abetalipoproteinemia Neuropathy 0
              Arts syndrome 2
              Ataxia and Polyneuropathy, Adult-Onset 1
              Ataxia with Fasciculations 0
              Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
              Ataxia, Deafness, and Cardiomyopathy 0
              Ataxia-Microcephaly-Cataract Syndrome 0
              Ataxia-Oculomotor Apraxia 4 1
              Atonic-Astatic Syndrome of Foerster 0
              Bangstad Syndrome 0
              Behr syndrome 1
              Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
              Bhaskar Jagannathan Syndrome 0
              CANOMAD Syndrome 0
              COACH syndrome 3
              Carnitine Acetyltransferase Deficiency 1
              Cataract Ataxia Deafness 0
              Cataracts, Ataxia, Short Stature, and Mental Retardation 0
              Cerebroretinal Microangiopathy with Calcifications and Cysts + 2
              Christianson syndrome 6
              Deafness Hyperuricemia Neurologic Ataxia 0
              Diaminopentanuria 0
              Erythrokeratodermia with Ataxia 1
              Gait Ataxia + 6
              Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
              HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
              HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
              Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
              Joubert syndrome 7 1
              Leukoencephalopathy with Ataxia 1
              Mitochondrial Myopathy, and Ataxia 1
              Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
              Myokymia 1 1
              Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
              PHARC syndrome 1
              Partington syndrome 1
              Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 0
              Posterior Column Ataxia with Retinitis Pigmentosa 2
              Reardon Wilson Cavanagh Syndrome 0
              Richards-Rundle Syndrome 0
              Sensory Ataxia, Autosomal Dominant 1
              Spastic Ataxia with Congenital Miosis 0
              Spastic Paraplegia, Ataxia, and Mental Retardation 0
              Spinocerebellar Ataxias + 198
              Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures 1
              Tapetoretinal Degeneration with Ataxia 0
              Treft Sanborn Carey Syndrome 0
              Tremor of Intention, Ataxia, and Lipofuscinosis 0
              Tryptophanuria with Dwarfism 0
              ataxia with oculomotor apraxia type 3 1
              ataxic cerebral palsy 0
              coenzyme Q10 deficiency disease + 26
              familial isolated deficiency of vitamin E 3
              hereditary ataxia + 186
              hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
              optic atrophy 10 1
              progressive myoclonus epilepsy 1B 2
              spondyloepimetaphyseal dysplasia, Genevieve-type 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            movement disease 1010
              Dyskinesias 716
                Ataxia 307
                  ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 0
                  Abetalipoproteinemia Neuropathy 0
                  Arts syndrome 2
                  Ataxia and Polyneuropathy, Adult-Onset 1
                  Ataxia with Fasciculations 0
                  Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                  Ataxia, Deafness, and Cardiomyopathy 0
                  Ataxia-Microcephaly-Cataract Syndrome 0
                  Ataxia-Oculomotor Apraxia 4 1
                  Atonic-Astatic Syndrome of Foerster 0
                  Bangstad Syndrome 0
                  Behr syndrome 1
                  Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 0
                  Bhaskar Jagannathan Syndrome 0
                  CANOMAD Syndrome 0
                  COACH syndrome 3
                  Carnitine Acetyltransferase Deficiency 1
                  Cataract Ataxia Deafness 0
                  Cataracts, Ataxia, Short Stature, and Mental Retardation 0
                  Cerebroretinal Microangiopathy with Calcifications and Cysts + 2
                  Christianson syndrome 6
                  Deafness Hyperuricemia Neurologic Ataxia 0
                  Diaminopentanuria 0
                  Erythrokeratodermia with Ataxia 1
                  Gait Ataxia + 6
                  Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine 1
                  HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 1
                  HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                  Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 0
                  Joubert syndrome 7 1
                  Leukoencephalopathy with Ataxia 1
                  Mitochondrial Myopathy, and Ataxia 1
                  Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 0
                  Myokymia 1 1
                  Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
                  PHARC syndrome 1
                  Partington syndrome 1
                  Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 0
                  Posterior Column Ataxia with Retinitis Pigmentosa 2
                  Reardon Wilson Cavanagh Syndrome 0
                  Richards-Rundle Syndrome 0
                  Sensory Ataxia, Autosomal Dominant 1
                  Spastic Ataxia with Congenital Miosis 0
                  Spastic Paraplegia, Ataxia, and Mental Retardation 0
                  Spinocerebellar Ataxias + 198
                  Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures 1
                  Tapetoretinal Degeneration with Ataxia 0
                  Treft Sanborn Carey Syndrome 0
                  Tremor of Intention, Ataxia, and Lipofuscinosis 0
                  Tryptophanuria with Dwarfism 0
                  ataxia with oculomotor apraxia type 3 1
                  ataxic cerebral palsy 0
                  coenzyme Q10 deficiency disease + 26
                  familial isolated deficiency of vitamin E 3
                  hereditary ataxia + 186
                  hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                  optic atrophy 10 1
                  progressive myoclonus epilepsy 1B 2
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
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.