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ONTOLOGY REPORT - ANNOTATIONS


Term:Dyskinesias
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Accession:DOID:9008675 term browser browse the term
Definition:Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.
Synonyms:exact_synonym: Abnormal Movement;   Asterixis;   Ballismus;   Dyskinesia;   Hemiballism;   Hemiballismus;   Involuntary Movement;   Involuntary Movements;   Linguofacial Dyskinesia;   Linguofacial Dyskinesias;   Oral facial Dyskinesia;   Oral-facial Dyskinesias;   Orofacial Dyskinesia;   Orofacial Dyskinesias;   Tardive Oral Dyskinesia;   abnormal movements;   tardive oral dyskinesias
 primary_id: MESH:D020820
 alt_id: RDO:0000682
For additional species annotation, visit the Alliance of Genome Resources.


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Dyskinesias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Htr1b 5-hydroxytryptamine receptor 1B JBrowse link 8 89,113,984 89,130,830 RGD:1626453
G Htr2a 5-hydroxytryptamine receptor 2A JBrowse link 15 56,666,152 56,732,469 RGD:11554173
G Oprm1 opioid receptor, mu 1 JBrowse link 1 43,454,803 43,704,948 RGD:11554173
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:11554173
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B JBrowse link 10 86,303,727 86,312,770 RGD:11554173
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:10003138
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
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
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:8554872
adult-onset ataxia and polyneuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 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 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: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 Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:5490257
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 Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:11554173
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
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:8554872
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 Npat nuclear protein, co-activator of histone transcription JBrowse link 8 58,120,179 58,158,052 RGD:8554872
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:11554173
RGD:8554872
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 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 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
autosomal recessive spinocerebellar ataxia 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
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 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
Autosomal Recessive Spinocerebellar Ataxia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thg1l tRNA-histidine guanylyltransferase 1-like JBrowse link 10 31,043,647 31,052,092 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13d vacuolar protein sorting 13 homolog D JBrowse link 5 162,891,451 163,119,239 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 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
Benign Essential Blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:7240710
Benign Familial Chorea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:12914772
RGD:12914773
RGD:11073166
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8554872
blepharospasm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:734899
RGD:11554173
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
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
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
Catalepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adora1 adenosine A1 receptor JBrowse link 13 51,042,111 51,076,913 RGD:11554173
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:11554173
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:2289788
G Drd1 dopamine receptor D1 JBrowse link 17 11,099,736 11,104,352 RGD:11554173
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Fyn FYN proto-oncogene, Src family tyrosine kinase JBrowse link 20 44,436,354 44,630,316 RGD:11554173
G Gcg glucagon JBrowse link 3 48,442,635 48,451,650 RGD:11554173
G Htr1a 5-hydroxytryptamine receptor 1A JBrowse link 2 36,246,628 36,247,896 RGD:5683633
G Nts neurotensin JBrowse link 7 44,111,594 44,120,998 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B JBrowse link 10 86,303,727 86,312,770 RGD:11554173
G Prl prolactin JBrowse link 17 39,814,236 39,824,299 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
G Trh thyrotropin releasing hormone JBrowse link 4 124,110,716 124,113,242 RGD:11554173
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 Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Cep104 centrosomal protein 104 JBrowse link 5 171,262,278 171,294,560 RGD:8554872
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 Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 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 Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
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 membrane subunit 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 Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 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 Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
cerebellar ataxia type 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
cerebellar ataxia type 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
cerebellar ataxia type 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
cerebellar ataxia type 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
cerebellar ataxia type 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
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
RGD:8554872
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
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 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
cervical dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147570
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
childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr88 G-protein coupled receptor 88 JBrowse link 2 219,258,346 219,263,819 RGD:8554872
RGD:7240710
choreaacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:8554872
RGD:7240710
choreatic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:11554173
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Glrx3 glutaredoxin 3 JBrowse link 1 209,768,696 209,799,912 RGD:8554872
G Mbip MAP3K12 binding inhibitory protein 1 JBrowse link 6 77,226,439 77,243,696 RGD:8554872
G Mgmt O-6-methylguanine-DNA methyltransferase JBrowse link 1 209,237,255 209,464,189 RGD:8554872
G Mipol1 mirror-image polydactyly 1 JBrowse link 6 78,172,842 78,506,232 RGD:8554872
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:1600157
RGD:8554872
RGD:7240710
G Nkx2-8 NK2 homeobox 8 JBrowse link 6 77,506,882 77,508,585 RGD:8554872
G Pax9 paired box 9 JBrowse link 6 77,607,705 77,624,453 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Pde2a phosphodiesterase 2A JBrowse link 1 166,534,643 166,626,158 RGD:8554872
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147792
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147792
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147792
G Slc25a21 solute carrier family 25 member 21 JBrowse link 6 77,624,384 78,121,339 RGD:8554872
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:1599747
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 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
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 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
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:11554173
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710
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
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 JBrowse link 5 120,330,372 120,492,515 RGD:8554872
Congenital Myopathy with Tremor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
RGD:7240710
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
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
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
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872
Drug-Induced Dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:1598524
RGD:10047091
G Cacna1d calcium voltage-gated channel subunit alpha1 D JBrowse link 16 6,110,294 6,405,022 RGD:6906919
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:11554173
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:2289781
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:1358547
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:10398811
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:5128860
G Drd1 dopamine receptor D1 JBrowse link 17 11,099,736 11,104,352 RGD:11554173
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:2311579
RGD:11554173
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:11554173
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:10395307
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit JBrowse link 1 80,214,691 80,221,417 RGD:11554173
G Gad1 glutamate decarboxylase 1 JBrowse link 3 56,861,440 56,902,139 RGD:11554173
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:11554173
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:11554173
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:10047091
G Grk6 G protein-coupled receptor kinase 6 JBrowse link 17 9,705,917 9,721,921 RGD:5684919
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:13792768
G Homer1 homer scaffold protein 1 JBrowse link 2 22,909,550 23,012,303 RGD:11554173
G Htr1a 5-hydroxytryptamine receptor 1A JBrowse link 2 36,246,628 36,247,896 RGD:5683628
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:13800920
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040953
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:11554173
G Penk proenkephalin JBrowse link 5 17,056,412 17,061,762 RGD:10003039
RGD:11554173
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B JBrowse link 10 86,303,727 86,312,770 RGD:13514053
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:11554173
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:2298778
G Rgs4 regulator of G-protein signaling 4 JBrowse link 13 88,054,817 88,061,108 RGD:13524515
G Rgs9 regulator of G-protein signaling 9 JBrowse link 10 97,509,971 97,582,188 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
RGD:7240710
dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:11554173
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:11554173
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:11554173
RGD:8554872
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
RGD:5133436
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11554173
RGD:8554872
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 JBrowse link 13 50,091,644 50,153,808 RGD:1599351
G Atp4a ATPase H+/K+ transporting subunit alpha JBrowse link 1 89,162,700 89,175,504 RGD:8554872
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688127
G Camk2b calcium/calmodulin-dependent protein kinase II beta JBrowse link 14 86,208,876 86,297,727 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
G Cd22 CD22 molecule JBrowse link 1 89,313,475 89,329,902 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:11554173
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:11554173
RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:11554173
G Cox6b1 cytochrome c oxidase subunit 6B1 JBrowse link 1 89,075,987 89,084,834 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11554173
G Dctn1 dynactin subunit 1 JBrowse link 4 114,876,770 114,896,567 RGD:8554872
G Dmkn dermokine JBrowse link 1 89,215,266 89,229,696 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:8554872
G Etv2 ETS variant transcription factor 2 JBrowse link 1 89,091,239 89,094,570 RGD:8554872
G Fam187b family with sequence similarity 187, member B JBrowse link 1 89,408,718 89,416,629 RGD:8554872
G Ffar1 free fatty acid receptor 1 JBrowse link 1 89,308,475 89,309,379 RGD:8554872
G Ffar2 free fatty acid receptor 2 JBrowse link 1 89,268,197 89,271,942 RGD:8554872
G Ffar3 free fatty acid receptor 3 JBrowse link 1 89,302,035 89,304,064 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Fxyd1 FXYD domain-containing ion transport regulator 1 JBrowse link 1 89,484,197 89,488,279 RGD:8554872
G Fxyd3 FXYD domain-containing ion transport regulator 3 JBrowse link 1 89,502,561 89,510,146 RGD:8554872
G Fxyd5 FXYD domain-containing ion transport regulator 5 JBrowse link 1 89,464,853 89,474,450 RGD:8554872
G Fxyd7 FXYD domain-containing ion transport regulator 7 JBrowse link 1 89,474,601 89,484,069 RGD:8554872
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic JBrowse link 1 89,180,063 89,195,347 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:1601280
RGD:8554872
RGD:11554173
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:11554173
G Gnal G protein subunit alpha L JBrowse link 18 62,805,406 62,946,133 RGD:11554173
RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 JBrowse link X 127,561,843 127,829,763 RGD:8554872
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:8554872
G Haus5 HAUS augmin-like complex, subunit 5 JBrowse link 1 89,113,045 89,124,971 RGD:8554872
G Hpn hepsin JBrowse link 1 89,534,112 89,549,575 RGD:8554872
G Hspb6 heat shock protein family B (small) member 6 JBrowse link 1 89,008,117 89,010,256 RGD:8554872
G Igflr1 IGF-like family receptor 1 JBrowse link 1 89,020,341 89,022,221 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:11554173
RGD:8554872
G Krtdap keratinocyte differentiation associated protein JBrowse link 1 89,234,689 89,235,610 RGD:8554872
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
G Lin37 lin-37 DREAM MuvB core complex component JBrowse link 1 89,010,254 89,014,481 RGD:8554872
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:8554872
G Lsr lipolysis stimulated lipoprotein receptor JBrowse link 1 89,383,515 89,399,041 RGD:8554872
G Mag myelin-associated glycoprotein JBrowse link 1 89,345,325 89,360,905 RGD:8554872
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Myo5a myosin VA JBrowse link 8 82,038,966 82,156,507 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
G Pank2 pantothenate kinase 2 JBrowse link 3 123,807,911 123,841,797 RGD:8554872
G Pde2a phosphodiesterase 2A JBrowse link 1 166,534,643 166,626,158 RGD:8554872
G Penk proenkephalin JBrowse link 5 17,056,412 17,061,762 RGD:10003100
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:11554173
RGD:8554872
G Proser3 proline and serine rich 3 JBrowse link 1 88,994,552 89,007,808 RGD:8554872
G Psenen presenilin enhancer gamma secretase subunit JBrowse link 1 89,016,093 89,017,449 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Rbm42 RNA binding motif protein 42 JBrowse link 1 89,099,296 89,109,248 RGD:8554872
G Rhobtb2 Rho-related BTB domain containing 2 JBrowse link 15 51,465,148 51,485,562 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Sbsn suprabasin JBrowse link 1 89,202,527 89,206,994 RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:11554173
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:11554173
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 Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:11554173
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:1600054
RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:8554872
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:11554173
RGD:8554872
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:1600152
RGD:13209134
G Tmem147 transmembrane protein 147 JBrowse link 1 89,177,995 89,179,815 RGD:8554872
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:11554173
RGD:8554872
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 JBrowse link 1 89,017,414 89,019,651 RGD:8554872
G Upk1a uroplakin 1A JBrowse link 1 89,060,581 89,071,579 RGD:8554872
G Usf2 upstream transcription factor 2, c-fos interacting JBrowse link 1 89,371,798 89,383,005 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
G Zbtb32 zinc finger and BTB domain containing 32 JBrowse link 1 89,043,121 89,052,863 RGD:8554872
dystonia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:7240710
RGD:8554872
RGD:11055714
RGD:11554173
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:6482737
dystonia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp7 FKBP prolyl isomerase 7 JBrowse link 3 63,522,480 63,535,835 RGD:8554872
G Pjvk pejvakin JBrowse link 3 63,508,386 63,518,163 RGD:8554872
G Plekha3 pleckstrin homology domain containing A3 JBrowse link 3 63,536,166 63,557,378 RGD:8554872
G Prkra protein activator of interferon induced protein kinase EIF2AK2 JBrowse link 3 63,489,081 63,507,918 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
dystonia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:7240710
RGD:8554872
dystonia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:7240710
RGD:8554872
dystonia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnal G protein subunit alpha L JBrowse link 18 62,805,406 62,946,133 RGD:7240710
RGD:8554872
dystonia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:7240710
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
DYSTONIA 28, CHILDHOOD-ONSET term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
RGD:7240710
dystonia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
RGD:11554173
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:8554872
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
RGD:12879478
Dystonia Musculorum Deformans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:634735
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 5 150,001,281 150,027,407 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710
early myoclonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd1c jumonji domain containing 1C JBrowse link 20 22,751,743 22,914,080 RGD:8554872
G Kcnd2 potassium voltage-gated channel subfamily D member 2 JBrowse link 4 48,309,283 48,816,804 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
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
G Tango2 transport and golgi organization 2 homolog JBrowse link 11 86,793,959 86,840,556 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
Episodic Ataxia Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:7240710
episodic kinesigenic dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asphd1 aspartate beta-hydroxylase domain containing 1 JBrowse link 1 198,379,060 198,382,982 RGD:8554872
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase JBrowse link 1 198,409,186 198,413,497 RGD:8554872
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Pagr1 Paxip1-associated glutamate-rich protein 1 JBrowse link 1 198,448,790 198,451,078 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
RGD:11554173
RGD:7240710
G Sez6l2 seizure related 6 homolog like 2 JBrowse link 1 198,383,201 198,403,544 RGD:8554872
essential tremor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 JBrowse link 8 112,697,907 112,830,445 RGD:8554872
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:1626359
RGD:13506957
RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:11554173
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:11554173
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509775
RGD:5509776
G Lingo1 leucine rich repeat and Ig domain containing 1 JBrowse link 8 61,272,125 61,455,480 RGD:11554173
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:8158098
essential tremor 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:7240710
RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
essential tremor 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hs1bp3 HCLS1 binding protein 3 JBrowse link 6 33,517,711 33,548,015 RGD:7240710
essential tremor 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:7240710
RGD:8554872
essential tremor 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tenm4 teneurin transmembrane protein 4 JBrowse link 1 161,183,858 161,885,094 RGD:8554872
RGD:7240710
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
RGD:7240710
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stard7 StAR-related lipid transfer domain containing 7 JBrowse link 3 119,698,655 119,727,303 RGD:7240710
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Marchf6 membrane associated ring-CH-type finger 6 JBrowse link 2 84,533,546 84,608,743 RGD:7240710
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yeats2 YEATS domain containing 2 JBrowse link 11 84,330,064 84,595,296 RGD:7240710
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn2 contactin 2 JBrowse link 13 49,280,913 49,314,061 RGD:7240710
RGD:8554872
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584 193,146,403 RGD:8554872
RGD:7240710
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:8554872
RGD:7240710
Familial Dyskinesia with Facial Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:7240710
RGD:8554872
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7207386
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 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
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
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
Familial Myoclonus 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nol3 nucleolar protein 3 JBrowse link 19 37,232,567 37,236,668 RGD:7240710
RGD:8554872
Familial Myoclonus 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:7240710
RGD:8554872
focal dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tor1a torsin family 1, member A JBrowse link 3 9,800,322 9,807,318 RGD:13592920
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:8554872
RGD:11554173
RGD:1582636
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 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
generalized dystonia 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:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:13592920
Generalized Epilepsy and Paroxysmal Dyskinesia 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: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
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
Huntington's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:10047058
RGD:10046047
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5688127
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686822
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:10047397
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:11554173
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5147768
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:10047400
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11040584
G Bag1 BAG cochaperone 1 JBrowse link 5 57,254,421 57,267,002 RGD:13506921
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054041
RGD:10054048
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688127
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054041
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:10058981
RGD:10415531
RGD:10059353
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:13432082
RGD:10413886
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:734695
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:13432083
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:5130752
G Cebpa CCAAT/enhancer binding protein alpha JBrowse link 1 91,363,492 91,366,164 RGD:6484269
RGD:10401191
G Cebpb CCAAT/enhancer binding protein beta JBrowse link 3 164,424,502 164,425,933 RGD:10401227
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:5686805
G Cib1 calcium and integrin binding 1 JBrowse link 1 142,014,962 142,020,461 RGD:10401859
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Cnr2 cannabinoid receptor 2 JBrowse link 5 154,242,010 154,268,126 RGD:2316196
G Cntf ciliary neurotrophic factor JBrowse link 1 229,599,009 229,601,032 RGD:628474
RGD:734795
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:734817
RGD:10059577
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:10059583
RGD:13432094
RGD:13432093
G Ctsh cathepsin H JBrowse link 8 97,439,155 97,458,293 RGD:5686393
G Cycs cytochrome c, somatic JBrowse link 4 80,331,226 80,333,326 RGD:13432083
G Diablo diablo, IAP-binding mitochondrial protein JBrowse link 12 38,490,230 38,503,344 RGD:11554173
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:13432154
RGD:13432155
G Dnah6 dynein, axonemal, heavy chain 6 JBrowse link 4 100,936,834 101,157,511 RGD:13432158
G Drd1 dopamine receptor D1 JBrowse link 17 11,099,736 11,104,352 RGD:2302117
RGD:13592920
RGD:7248682
RGD:5686414
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:5686414
RGD:7248682
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:5686414
G Drd5 dopamine receptor D5 JBrowse link 14 77,220,579 77,222,006 RGD:5686414
G Dusp1 dual specificity phosphatase 1 JBrowse link 10 16,970,642 16,973,425 RGD:7771544
G Dynlt1 dynein light chain Tctex-type 1 JBrowse link 1 47,206,892 47,213,785 RGD:13432158
G E2f1 E2F transcription factor 1 JBrowse link 3 150,062,895 150,073,721 RGD:2316262
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:10047165
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:10395281
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 JBrowse link 6 1,428,845 1,466,193 RGD:10395345
RGD:10395348
G Elk1 ETS transcription factor ELK1 JBrowse link X 1,287,875 1,304,822 RGD:7488914
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:13432192
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:5147768
G Faah fatty acid amide hydrolase JBrowse link 5 134,852,899 134,872,095 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903948
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903948
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:11560524
G Gapdh glyceraldehyde-3-phosphate dehydrogenase JBrowse link 4 157,676,336 157,680,322 RGD:13792684
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:11554173
G Git1 GIT ArfGAP 1 JBrowse link 10 62,656,000 62,664,467 RGD:1549448
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7207854
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:10046047
RGD:13524508
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:13432193
G Gpx6 glutathione peroxidase 6 JBrowse link 17 45,439,268 45,446,952 RGD:13432193
G Grik2 glutamate ionotropic receptor kainate type subunit 2 JBrowse link 20 53,791,428 54,517,691 RGD:1358638
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:13432195
RGD:13432556
RGD:13432554
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13432195
RGD:13432556
RGD:13432554
G Grm5 glutamate metabotropic receptor 5 JBrowse link 1 151,207,846 151,785,038 RGD:13432558
RGD:13432562
RGD:13432561
RGD:13432158
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401927
G Haao 3-hydroxyanthranilate 3,4-dioxygenase JBrowse link 6 7,045,145 7,059,227 RGD:13524507
G Hap1 huntingtin-associated protein 1 JBrowse link 10 88,257,975 88,266,210 RGD:13432575
RGD:10401859
RGD:13432579
RGD:13432578
RGD:13432577
RGD:13432576
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:9590098
RGD:10402189
G Hdac3 histone deacetylase 3 JBrowse link 18 31,073,057 31,094,347 RGD:9590098
RGD:10402189
G Hdac7 histone deacetylase 7 JBrowse link 7 139,280,396 139,319,108 RGD:9681718
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:5508462
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509774
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:9693681
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:10402372
RGD:10402387
RGD:10402386
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:5688778
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:5688723
G Htt huntingtin JBrowse link 14 81,105,139 81,254,637 RGD:1302537
RGD:13452381
RGD:11554173
RGD:11062153
RGD:11062152
RGD:10403029
RGD:10403026
RGD:10402938
RGD:7240710
RGD:6902915
G Ift57 intraflagellar transport 57 JBrowse link 11 53,664,638 53,731,779 RGD:13432581
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:13432581
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10045865
RGD:12904970
RGD:10045870
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:10045870
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:10402809
G Il6r interleukin 6 receptor JBrowse link 2 189,196,180 189,255,987 RGD:10402809
G Ip6k2 inositol hexakisphosphate kinase 2 JBrowse link 8 117,574,136 117,599,849 RGD:11554173
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6480685
RGD:6483009
RGD:6480875
G Kdm5c lysine demethylase 5C JBrowse link X 22,302,664 22,349,298 RGD:9587806
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483035
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128676
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:11554173
G Maob monoamine oxidase B JBrowse link X 6,430,694 6,533,520 RGD:11554173
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:6483090
G Map3k5 mitogen-activated protein kinase kinase kinase 5 JBrowse link 1 15,412,603 15,613,752 RGD:10412311
RGD:10412314
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:7349325
G Mir132 microRNA 132 JBrowse link 10 62,014,995 62,015,095 RGD:11041745
G Mir22 microRNA 22 JBrowse link 10 62,299,592 62,299,686 RGD:11041745
G Mir222 microRNA 222 JBrowse link X 3,683,919 3,684,021 RGD:11041745
G Mir448 microRNA 448 JBrowse link X 118,277,684 118,277,795 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204827
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:10412317
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:13506651
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:5687693
G Mtnr1a melatonin receptor 1A JBrowse link 16 50,339,358 50,358,809 RGD:9686058
G Napepld N-acyl phosphatidylethanolamine phospholipase D JBrowse link 4 9,965,323 10,004,650 RGD:10412654
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:5688338
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:10412688
G Nfkb1 nuclear factor kappa B subunit 1 JBrowse link 2 240,773,520 240,890,053 RGD:10045663
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:10058981
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:10415531
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:2292130
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:10431606
RGD:10433553
RGD:10433112
G Npy2r neuropeptide Y receptor Y2 JBrowse link 2 181,528,949 181,538,145 RGD:10431606
G Nrf1 nuclear respiratory factor 1 JBrowse link 4 57,335,732 57,445,317 RGD:6771173
RGD:6770890
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:6480499
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:10413886
G Pcp4 Purkinje cell protein 4 JBrowse link 11 36,851,035 36,912,272 RGD:9850159
G Plcb3 phospholipase C beta 3 JBrowse link 1 222,207,887 222,224,993 RGD:13432582
G Polr2a RNA polymerase II subunit A JBrowse link 10 56,339,277 56,364,888 RGD:10043799
G Ppard peroxisome proliferator-activated receptor delta JBrowse link 20 7,818,289 7,883,482 RGD:13592920
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:6484259
RGD:10395291
RGD:10395290
RGD:10395289
RGD:10053656
RGD:10053663
RGD:6770890
RGD:10053650
RGD:7242018
RGD:10053648
RGD:6484269
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B JBrowse link 10 86,303,727 86,312,770 RGD:13515080
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A JBrowse link 4 29,976,485 30,247,371 RGD:10043799
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:6483320
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 JBrowse link 2 54,857,688 54,893,404 RGD:6484534
G Prkn parkin RBR E3 ubiquitin protein ligase JBrowse link 1 48,880,015 50,069,998 RGD:10412729
G Psmb9 proteasome 20S subunit beta 9 JBrowse link 20 3,973,424 3,978,845 RGD:6483364
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5508227
G Qprt quinolinate phosphoribosyltransferase JBrowse link 1 198,544,262 198,559,556 RGD:13524507
G Rcan1 regulator of calcineurin 1 JBrowse link 11 32,539,689 32,620,274 RGD:11554173
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 JBrowse link 2 196,495,867 196,527,412 RGD:9590159
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:5688338
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:9585998
RGD:10395240
RGD:9586004
G Slc18a3 solute carrier family 18 member A3 JBrowse link 16 8,682,668 8,685,529 RGD:5686805
G Slc1a2 solute carrier family 1 member 2 JBrowse link 3 92,518,679 92,665,731 RGD:13432194
RGD:13432195
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13464352
G Srsf6 serine and arginine rich splicing factor 6 JBrowse link 3 159,305,345 159,310,668 RGD:11039484
G Syne3 spectrin repeat containing, nuclear envelope family member 3 JBrowse link 6 128,639,036 128,716,061 RGD:9068941
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:5684339
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:6770890
RGD:6771173
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580169
G Trip10 thyroid hormone receptor interactor 10 JBrowse link 9 9,689,214 9,702,353 RGD:11535137
G Tug1 taurine up-regulated 1 JBrowse link 14 83,878,757 83,885,791 RGD:11073597
G Ucp1 uncoupling protein 1 JBrowse link 19 24,456,976 24,464,808 RGD:10045649
RGD:10045650
G Ucp2 uncoupling protein 2 JBrowse link 1 165,506,375 165,512,744 RGD:10045655
G Xpo5 exportin 5 JBrowse link 9 17,125,201 17,163,170 RGD:11041745
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 JBrowse link 1 104,106,211 104,145,045 RGD:13592920
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 JBrowse link 7 53,651,529 53,715,007 RGD:13592920
Huntington's disease-like 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:8554872
Huntington's disease-like 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jph3 junctophilin 3 JBrowse link 19 54,553,419 54,613,477 RGD:7240710
RGD:8554872
Hyperkinesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy1 adenylate cyclase 1 JBrowse link 14 87,311,970 87,429,880 RGD:11554173
G Adcy8 adenylate cyclase 8 JBrowse link 7 105,353,883 105,593,372 RGD:11554173
G Adora2a adenosine A2a receptor JBrowse link 20 14,265,251 14,282,873 RGD:11554173
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:11554173
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:11554173
G Cntnap2 contactin associated protein 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
G Crhr1 corticotropin releasing hormone receptor 1 JBrowse link 10 92,191,473 92,233,662 RGD:11554173
G Disc1 DISC1 scaffold protein JBrowse link 19 57,818,838 58,069,992 RGD:11554173
G Drd1 dopamine receptor D1 JBrowse link 17 11,099,736 11,104,352 RGD:11554173
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:11554173
G Drd3 dopamine receptor D3 JBrowse link 11 61,819,102 61,883,223 RGD:11554173
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:11554173
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 JBrowse link 20 1,955,344 1,984,907 RGD:11554173
G Gcg glucagon JBrowse link 3 48,442,635 48,451,650 RGD:11554173
G Git1 GIT ArfGAP 1 JBrowse link 10 62,656,000 62,664,467 RGD:11554173
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:11554173
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 JBrowse link 2 179,584,302 179,704,629 RGD:11554173
G Htr2a 5-hydroxytryptamine receptor 2A JBrowse link 15 56,666,152 56,732,469 RGD:11554173
G Htr2c 5-hydroxytryptamine receptor 2C JBrowse link X 118,084,520 118,318,040 RGD:11554173
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:6482186
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:11554173
G Map6 microtubule-associated protein 6 JBrowse link 1 164,225,776 164,292,094 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:11554173
G Nppc natriuretic peptide C JBrowse link 9 93,731,436 93,735,636 RGD:11554173
G Nps neuropeptide S JBrowse link 1 207,508,414 207,512,195 RGD:11554173
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:11554173
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:11554173
G Nts neurotensin JBrowse link 7 44,111,594 44,120,998 RGD:11554173
G Oxt oxytocin/neurophysin I prepropeptide JBrowse link 3 123,106,694 123,107,534 RGD:11554173
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:11554173
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:11554173
hypermanganesemia with dystonia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:7240710
RGD:8554872
hypermanganesemia with dystonia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a14 solute carrier family 39 member 14 JBrowse link 15 51,982,872 52,029,841 RGD:8554872
RGD:7240710
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:11554173
Hypokinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apod apolipoprotein D JBrowse link 11 72,705,204 72,726,263 RGD:11554173
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:11554173
G Oprl1 opioid related nociceptin receptor 1 JBrowse link 3 177,223,779 177,231,663 RGD:11554173
G Tyrobp transmembrane immune signaling adaptor Tyrobp JBrowse link 1 88,875,370 88,879,305 RGD:8554872
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
idiopathic generalized epilepsy 11 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:8554872
RGD:7240710
idiopathic generalized epilepsy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:7240710
idiopathic generalized epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Infantile-Onset Limb and Orofacial Dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde10a phosphodiesterase 10A JBrowse link 1 52,360,296 52,544,448 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca2 ATP binding cassette subfamily A member 2 JBrowse link 3 2,648,787 2,668,770 RGD:7240710
RGD:8554872
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 Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
juvenile myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd2 bromodomain containing 2 JBrowse link 20 3,910,555 3,921,074 RGD:1358444
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:11554173
RGD:8554872
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:8554872
RGD:11554173
RGD:7240710
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:11554173
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cilk1 ciliogenesis associated kinase 1 JBrowse link 8 85,413,998 85,473,374 RGD:7240710
Juvenile-Onset Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:7240710
RGD:8554872
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:7240710
RGD:8554872
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:8554872
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
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 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:11554173
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
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,736 13,565 RGD:8554872
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
Mirror Movements 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:7240710
RGD:8554872
Mirror Movements 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:8554872
RGD:7240710
Mirror Movements 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnal4 dynein, axonemal, light chain 4 JBrowse link 7 120,987,438 121,000,272 RGD:7240710
RGD:8554872
Mirror Movements 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntn1 netrin 1 JBrowse link 10 54,761,925 54,982,072 RGD:8554872
RGD:7240710
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
myoclonic dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casd1 CAS1 domain containing 1 JBrowse link 4 29,638,280 29,693,151 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Drd2 dopamine receptor D2 JBrowse link 8 53,678,777 53,743,643 RGD:8554872
G Kctd17 potassium channel tetramerization domain containing 17 JBrowse link 7 119,647,301 119,658,148 RGD:11554173
G Sgce sarcoglycan, epsilon JBrowse link 4 29,726,140 29,769,902 RGD:7240710
RGD:8554872
myoclonic dystonia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgce sarcoglycan, epsilon JBrowse link 4 29,726,140 29,769,902 RGD:13592920
myoclonic dystonia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd17 potassium channel tetramerization domain containing 17 JBrowse link 7 119,647,301 119,658,148 RGD:8554872
RGD:7240710
Myoclonic Epilepsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:6482231
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:11554173
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:11554173
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:11554173
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11554173
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584 193,146,403 RGD:11554173
Myoclonic Epilepsy, Familial Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnf cyclin F JBrowse link 10 13,594,687 13,619,935 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
RGD:11537392
Myoclonic-Atonic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:7240710
RGD:8554872
Myoclonus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
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
Neonatal Intractable Myoclonus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:8554872
RGD:7240710
neuroacanthocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps13a vacuolar protein sorting 13 homolog A JBrowse link 1 235,352,513 235,813,597 RGD:11554173
G Xk X-linked Kx blood group JBrowse link X 14,497,376 14,534,479 RGD:11554173
Neuroacanthocytosis, McLeod Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xk X-linked Kx blood group JBrowse link X 14,497,376 14,534,479 RGD:7240710
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 Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:7240710
RGD:8554872
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
oculogyric crisis 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:8554872
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
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
Parkinson's disease 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872
Parkinson's disease 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo7 F-box protein 7 JBrowse link 7 23,815,246 23,843,505 RGD:7240710
RGD:8554872
RGD:11554173
Parkinsonism-Dystonia, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:11554173
RGD:8554872
Parkinsonism-Dystonia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a3 solute carrier family 6 member 3 JBrowse link 1 32,323,011 32,363,983 RGD:7240710
RGD:8554872
Parkinsonism-Dystonia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc18a2 solute carrier family 18 member A2 JBrowse link 1 280,397,831 280,457,968 RGD:8554872
RGD:7240710
paroxysmal nonkinesigenic dyskinesia 1 term browser