ONTOLOGY REPORT - ANNOTATIONS


Term:cerebellar disease
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Accession:DOID:2786 term browser browse the term
Definition:Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Synonyms:exact_synonym: Cerebellar Disorder;   Cerebellar Disorders;   Cerebellar Dysfunction;   Cerebellar Dysfunctions;   Cerebellar Syndrome;   Cerebellar Syndromes;   Cerebellum Disease;   Cerebellum Diseases;   cerebellar diseases
 primary_id: MESH:D002526;   RDO:0000428
For additional species annotation, visit the Alliance of Genome Resources.


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cerebellar disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:11554173
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:11554173
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:11554173
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:11554173
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:13592920
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
Adult Cerebral Astrocytoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7207034
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
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, COMBINED CEREBELLAR AND PERIPHERAL, 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
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
autosomal recessive cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
autosomal recessive spinocerebellar ataxia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:7240710
RGD:8554872
autosomal recessive spinocerebellar ataxia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vwa3b von Willebrand factor A domain containing 3B JBrowse link 9 43,607,066 43,779,466 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg5 autophagy related 5 JBrowse link 20 49,301,783 49,393,147 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:8554872
RGD:7240710
autosomal recessive spinocerebellar ataxia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:7240710
RGD:8554872
Autosomal Recessive Spinocerebellar Ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Fbxo5 F-box protein 5 JBrowse link 1 42,461,277 42,467,646 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 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 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 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
CAPOS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576280
RGD:8554872
RGD:7240710
Cayman type cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:7240710
RGD:8554872
cerebellar angioblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
cerebellar ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atcay ATCAY kinesin light chain interacting caytaxin JBrowse link 7 11,356,017 11,379,782 RGD:1599348
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:13592920
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:8554872
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ebf3 EBF transcription factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:13506824
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:8554872
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694192
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Ptrh2 peptidyl-tRNA hydrolase 2 JBrowse link 10 74,002,151 74,012,182 RGD:8554872
G 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
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 and Hypogonadotropic Hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:7240710
RGD:8554872
cerebellar ataxia, mental retardation and dysequlibrium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:11554173
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:13592920
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:11554173
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:13592920
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vldlr very low density lipoprotein receptor JBrowse link 1 245,236,819 245,273,688 RGD:8554872
RGD:7240710
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr81 WD repeat domain 81 JBrowse link 10 62,273,817 62,287,213 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca8 carbonic anhydrase 8 JBrowse link 5 21,249,018 21,345,810 RGD:7240710
RGD:8554872
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:7240710
RGD:8554872
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elf2 E74 like ETS transcription factor 2 JBrowse link 2 140,310,374 140,399,312 RGD:8554872
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
RGD:7240710
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc1 ER membrane protein complex subunit 1 JBrowse link 5 157,820,908 157,846,226 RGD:8554872
RGD:7240710
Cerebellar Hypoplasia with Endosteal Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 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
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 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:8554872
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
RGD:7240710
Dandy Walker Cyst term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
Dandy-Walker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link 3 60,512,360 60,668,413 RGD:8554872
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Tmem47 transmembrane protein 47 JBrowse link X 48,779,110 48,805,644 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:13592920
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:1599905
RGD:13592920
G Zic4 Zic family member 4 JBrowse link 8 98,755,104 98,760,737 RGD:13592920
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:8554872
RGD:7240710
episodic ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:7240710
RGD:8554872
episodic ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:7240710
RGD:8554872
Familial Hemiplegic Migraine, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:11554173
RGD:7240710
Friedreich ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:1598961
RGD:8554872
RGD:11554173
RGD:1582636
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490251
Friedreich Ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:7240710
RGD:8554872
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:8554872
RGD:7240710
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:7240710
RGD:8554872
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
RGD:7240710
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
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 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
RGD:12911208
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 JBrowse link 2 88,384,796 88,414,012 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Rcor1 REST corepressor 1 JBrowse link 6 135,475,470 135,552,155 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:11067331
RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:11561921
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:13592920
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:11554173
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535965
RGD:11535963
Joubert Syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
Joubert Syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:7240710
Joubert syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd6 C2 calcium dependent domain containing 6 JBrowse link 9 65,817,039 65,879,564 RGD:8554872
G Mpp4 membrane palmitoylated protein 4 JBrowse link 9 65,917,917 65,961,274 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:7240710
RGD:8554872
Joubert syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:7240710
RGD:8554872
Joubert Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:7240710
RGD:8554872
Joubert Syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:7240710
RGD:8554872
RGD:11537349
Joubert Syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn3 tectonic family member 3 JBrowse link 1 259,681,435 259,691,881 RGD:7240710
RGD:8554872
Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919
Joubert syndrome 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:7240710
RGD:8554872
Joubert syndrome 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link 5 8,666,046 8,760,458 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:7240710
RGD:8554872
Joubert Syndrome 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6d phosphodiesterase 6D JBrowse link 9 93,562,099 93,607,061 RGD:7240710
RGD:8554872
Joubert Syndrome 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:7240710
RGD:8554872
Joubert syndrome 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872
Joubert Syndrome 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep104 centrosomal protein 104 JBrowse link 5 171,262,278 171,294,560 RGD:8554872
RGD:7240710
Joubert Syndrome 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
RGD:7240710
Joubert Syndrome 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
RGD:7240710
Joubert Syndrome 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
Joubert syndrome 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
Joubert syndrome 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
RGD:7240710
Joubert syndrome 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:8554872
RGD:7240710
Joubert syndrome 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
RGD:7240710
Joubert syndrome 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
RGD:7240710
JOUBERT SYNDROME 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:8554872
RGD:7240710
Joubert syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:7246903
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:7246903
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:11068164
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Joubert syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:7240710
RGD:8554872
RGD:11553937
Joubert syndrome 9 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
RGD:11535976
RGD:11062645
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
RGD:7240710
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmac2l distal membrane arm assembly complex 2 like JBrowse link 6 92,057,782 92,076,022 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:8554872
RGD:7240710
RGD:13506824
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 RGD:8554872
Machado-Joseph disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn3 ataxin 3 JBrowse link 6 125,817,420 125,853,461 RGD:1599419
RGD:11558010
RGD:5131159
RGD:11557998
RGD:11557997
RGD:8554872
RGD:7240710
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:6483072
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508762
G Slc18a2 solute carrier family 18 member A2 JBrowse link 1 280,397,831 280,457,968 RGD:5131159
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:5131159
Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:13592920
RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
nephronophthisis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
nephronophthisis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brat1 BRCA1-associated ATM activator 1 JBrowse link 12 16,016,062 16,028,534 RGD:8554872
RGD:7240710
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
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:10054301
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
pontocerebellar hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:8554872
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:8554872
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:8554872
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:8554872
G Tbc1d23 TBC1 domain family, member 23 JBrowse link 11 45,401,396 45,459,841 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:11554173
G Trmt10b tRNA methyltransferase 10B JBrowse link 5 60,841,517 60,866,480 RGD:8554872
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:8554872
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
Pontocerebellar Hypoplasia Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
pontocerebellar hypoplasia type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clp1 cleavage and polyadenylation factor I subunit 1 JBrowse link 3 72,125,269 72,137,122 RGD:7240710
RGD:8554872
Pontocerebellar Hypoplasia Type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d23 TBC1 domain family, member 23 JBrowse link 11 45,401,396 45,459,841 RGD:8554872
RGD:7240710
Pontocerebellar Hypoplasia Type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp1a charged multivesicular body protein 1A JBrowse link 19 56,001,724 56,010,004 RGD:8554872
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:11554173
G Exosc9 exosome component 9 JBrowse link 2 123,264,679 123,275,623 RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc3 exosome component 3 JBrowse link 5 60,866,498 60,871,734 RGD:7240710
RGD:8554872
G Vrk1 VRK serine/threonine kinase 1 JBrowse link 6 129,835,788 129,902,839 RGD:8554872
Pontocerebellar Hypoplasia Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc8 exosome component 8 JBrowse link 2 143,925,643 143,932,240 RGD:8554872
RGD:7240710
Pontocerebellar Hypoplasia Type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc9 exosome component 9 JBrowse link 2 123,264,679 123,275,623 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 14 60,657,730 60,687,950 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps53 VPS53 subunit of GARP complex JBrowse link 10 64,218,596 64,341,064 RGD:7240710
RGD:8554872
Pontocerebellar Hypoplasia Type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen15 tRNA splicing endonuclease subunit 15 JBrowse link 13 69,765,093 69,781,019 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pclo piccolo (presynaptic cytomatrix protein) JBrowse link 4 16,454,904 17,058,921 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
RGD:7240710
pontocerebellar hypoplasia type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp1a charged multivesicular body protein 1A JBrowse link 19 56,001,724 56,010,004 RGD:7240710
RGD:8554872
pontocerebellar hypoplasia type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd2 adenosine monophosphate deaminase 2 JBrowse link 2 210,861,624 210,874,348 RGD:7240710
RGD:8554872
PORETTI-BOLTSHAUSER SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lama1 laminin subunit alpha 1 JBrowse link 9 115,916,907 116,042,123 RGD:8554872
RGD:7240710
primary cerebellar degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:1300269
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:7240710
primary coenzyme Q10 deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42bpa CDC42 binding protein kinase alpha JBrowse link 13 98,231,326 98,447,762 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:7240710
RGD:8554872
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qars glutaminyl-tRNA synthetase JBrowse link 8 117,297,670 117,305,708 RGD:7240710
RGD:8554872
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:7240710
RGD:8554872
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11532672
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 1 211,922,389 211,923,929 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 JBrowse link 2 123,329,954 123,467,574 RGD:7240710
RGD:8554872
Spinocerebellar Ataxia 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:8554872
RGD:7240710
spinocerebellar ataxia 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:8554872
RGD:7240710
spinocerebellar ataxia 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat2 FAT atypical cadherin 2 JBrowse link 10 40,583,025 40,682,598 RGD:8554872
RGD:7240710
G Slc36a1 solute carrier family 36 member 1 JBrowse link 10 40,538,013 40,573,304 RGD:8554872
spinocerebellar ataxia 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pld3 phospholipase D family, member 3 JBrowse link 1 84,339,269 84,361,686 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pum1 pumilio RNA-binding family member 1 JBrowse link 5 148,781,239 148,911,776 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
RGD:7240710
spinocerebellar ataxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn1 ataxin 1 JBrowse link 17 19,160,986 19,533,814 RGD:8554872
RGD:7240710
spinocerebellar ataxia type 1 with axonal neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn10 ataxin 10 JBrowse link 7 126,228,416 126,351,728 RGD:7240710
spinocerebellar ataxia type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttbk2 tau tubulin kinase 2 JBrowse link 3 112,677,932 112,789,615 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta JBrowse link 18 36,985,709 37,421,383 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnc3 potassium voltage-gated channel subfamily C member 3 JBrowse link 1 100,593,453 100,607,874 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6480683
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6480871
G Setmar SET domain and mariner transposase fusion gene JBrowse link 4 140,092,346 140,104,495 RGD:8554872
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:8554872
spinocerebellar ataxia type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1b ATP synthase F1 subunit beta JBrowse link 7 2,504,708 2,511,748 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Hspa5 heat shock protein family A (Hsp70) member 5 JBrowse link 3 13,838,304 13,842,763 RGD:11554173
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:11554173
G Hyou1 hypoxia up-regulated 1 JBrowse link 8 48,699,796 48,711,912 RGD:11554173
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:11554173
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:11554173
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:7240710
RGD:8554872
RGD:9681730
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:7240710
RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef2 eukaryotic translation elongation factor 2 JBrowse link 7 11,401,501 11,406,771 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:7240710
RGD:8554872
RGD:11554173
spinocerebellar ataxia type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
RGD:11534993
RGD:11532678
RGD:11532675
RGD:11532674
RGD:11532673
RGD:11532671
spinocerebellar ataxia type 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:7240710
RGD:8554872
RGD:11554173
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
spinocerebellar ataxia type 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bean1 brain expressed, associated with NEDD4, 1 JBrowse link 19 947,862 993,467 RGD:8554872
RGD:7240710
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:8554872
spinocerebellar ataxia type 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:7240710
spinocerebellar ataxia type 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:7240710
spinocerebellar ataxia type 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
RGD:7240710
spinocerebellar ataxia type 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl5 ELOVL fatty acid elongase 5 JBrowse link 8 85,220,941 85,287,449 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:7240710
spinocerebellar ataxia type 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:7240710
spinocerebellar ataxia type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Spinocerebellar Ataxia with Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Spinocerebellar Ataxia, Autosomal Recessive 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdp2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 17 42,229,667 42,241,025 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia, Autosomal Recessive 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
RGD:7240710
Spinocerebellar Ataxia, Autosomal Recessive 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
Spinocerebellar Ataxia, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:8554872
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:7240710
RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Nhsl2 NHS-like 2 JBrowse link X 71,895,202 71,980,019 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
Spinocerebellar Ataxias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11554173
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
RGD:11554173
G Atxn1 ataxin 1 JBrowse link 17 19,160,986 19,533,814 RGD:11554173
G Atxn10 ataxin 10 JBrowse link 7 126,228,416 126,351,728 RGD:1599410
G Atxn1l ataxin 1-like JBrowse link 19 41,932,356 41,939,456 RGD:11554173
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:11554173
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:11554173
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1358570
RGD:11554173
RGD:10054466
RGD:10054421
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:11554173
G Casp7 caspase 7 JBrowse link 1 277,190,557 277,242,779 RGD:5684537
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:11554173
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:11554173
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Cwf19l1 CWF19 like cell cycle control factor 1 JBrowse link 1 263,887,014 263,910,251 RGD:11554173
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Elovl5 ELOVL fatty acid elongase 5 JBrowse link 8 85,220,941 85,287,449 RGD:11554173
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Gfi1 growth factor independent 1 transcriptional repressor JBrowse link 14 3,058,035 3,073,332 RGD:11554173
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:11554173
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:11554173
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Kat2a lysine acetyltransferase 2A JBrowse link 10 88,611,586 88,619,558 RGD:9590239
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:11554173
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:6480499
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:8554872
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta JBrowse link 18 36,985,709 37,421,383 RGD:5686297
RGD:11554173
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:737790
RGD:8554872
RGD:11554173
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:11554173
G Rubcn rubicon autophagy regulator JBrowse link 11 71,150,506 71,199,254 RGD:11554173
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:11554173
G Snx14 sorting nexin 14 JBrowse link 8 96,018,943 96,088,405 RGD:11554173
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:8554872
RGD:11554173
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:11554173
G Syt14 synaptotagmin 14 JBrowse link 13 111,630,005 111,766,334 RGD:11554173
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:5684014
RGD:5684015
G Tdp1 tyrosyl-DNA phosphodiesterase 1 JBrowse link 6 123,895,860 123,963,688 RGD:8554872
G Tdp2 tyrosyl-DNA phosphodiesterase 2 JBrowse link 17 42,229,667 42,241,025 RGD:11554173
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
RGD:11554173
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 JBrowse link 2 123,329,954 123,467,574 RGD:11554173
G Ttbk2 tau tubulin kinase 2 JBrowse link 3 112,677,932 112,789,615 RGD:11554173
RGD:8554872
G Tubb6 tubulin, beta 6 class V JBrowse link 18 63,130,542 63,140,181 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:11554173
G Vwa3b von Willebrand factor A domain containing 3B JBrowse link 9 43,607,066 43,779,466 RGD:11554173
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:11554173
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 32,329,883 32,376,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:1598600
RGD:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            cerebellar disease 314
              Arima Syndrome 0
              Behrens Baumann Dust Syndrome 0
              Cerebellar Degeneration-Related Autoantigen 3 0
              Cerebellar Neoplasms + 2
              Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
              Cerebelloparenchymal Disorder VI 0
              Dandy-Walker syndrome + 16
              Dykes Markes Harper Syndrome 0
              Dystonia with Cerebellar Atrophy 0
              GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
              Joubert syndrome + 59
              L-2-hydroxyglutaric aciduria 4
              Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability 1
              Miller Fisher syndrome 0
              PORETTI-BOLTSHAUSER SYNDROME 1
              Paraneoplastic Cerebellar Degeneration 0
              Porencephaly Cerebellar Hypoplasia Malformations 0
              Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
              Stevenson-Carey Syndrome 0
              Subacute Cerebellar Degeneration 0
              pontocerebellar hypoplasia + 20
              primary cerebellar degeneration + 221
paths to the root

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