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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant cerebellar ataxia
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Accession:DOID:1441 term browser browse the term
Definition:A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:primary_id: RDO:9003720
 xref: NCI:C82341
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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:7240710
RGD:8554872
RGD:11557997
RGD:11557998
RGD:5131159
RGD:11558010
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
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 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn10 ataxin 10 JBrowse link 7 126,228,416 126,351,728 RGD:7240710
spinocerebellar ataxia type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttbk2 tau tubulin kinase 2 JBrowse link 3 112,677,932 112,789,615 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta JBrowse link 18 36,985,709 37,421,383 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnc3 potassium voltage-gated channel subfamily C member 3 JBrowse link 1 100,593,453 100,607,874 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcg protein kinase C, gamma JBrowse link 1 64,407,098 64,433,698 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6480683
RGD:8554872
RGD:11554173
RGD:7240710
RGD:6480871
G Setmar SET domain and mariner transposase fusion gene JBrowse link 4 140,092,346 140,104,495 RGD:8554872
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:8554872
spinocerebellar ataxia type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1b ATP synthase F1 subunit beta JBrowse link 7 2,504,708 2,511,748 RGD:11554173
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Hspa5 heat shock protein family A (Hsp70) member 5 JBrowse link 3 13,838,304 13,842,763 RGD:11554173
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:11554173
G Hyou1 hypoxia up-regulated 1 JBrowse link 8 48,699,796 48,711,912 RGD:11554173
G Nqo1 NAD(P)H quinone dehydrogenase 1 JBrowse link 19 38,422,210 38,437,103 RGD:11554173
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:11554173
G Tbp TATA box binding protein JBrowse link 1 57,491,381 57,509,335 RGD:7240710
RGD:8554872
RGD:9681730
spinocerebellar ataxia type 19/22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:7240710
RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl1 SCY1 like pseudokinase 1 JBrowse link 1 221,115,992 221,129,668 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdyn prodynorphin JBrowse link 3 122,194,327 122,206,671 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eef2 eukaryotic translation elongation factor 2 JBrowse link 7 11,401,501 11,406,771 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf14 fibroblast growth factor 14 JBrowse link 15 110,382,274 111,077,027 RGD:7240710
RGD:8554872
RGD:11554173
spinocerebellar ataxia type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
RGD:11534993
RGD:11532678
RGD:11532675
RGD:11532674
RGD:11532673
RGD:11532671
spinocerebellar ataxia type 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:7240710
RGD:8554872
RGD:11554173
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
spinocerebellar ataxia type 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bean1 brain expressed, associated with NEDD4, 1 JBrowse link 19 947,862 993,467 RGD:8554872
RGD:7240710
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:8554872
spinocerebellar ataxia type 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link 8 91,310,690 91,338,625 RGD:7240710
spinocerebellar ataxia type 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:7240710
spinocerebellar ataxia type 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl5 ELOVL fatty acid elongase 5 JBrowse link 8 85,220,941 85,287,449 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 JBrowse link 19 37,327,395 37,345,047 RGD:7240710
spinocerebellar ataxia type 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88c coiled-coil domain containing 88C JBrowse link 6 124,905,811 125,028,011 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptbn2 spectrin, beta, non-erythrocytic 2 JBrowse link 1 219,964,429 220,006,811 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:7240710
RGD:8554872
spinocerebellar ataxia type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        neurodegenerative disease 2691
          hereditary ataxia 186
            autosomal dominant cerebellar ataxia 63
              GRID2-related spinocerebellar ataxia 0
              Machado-Joseph disease + 5
              Spinocerebellar Ataxia 32 0
              Spinocerebellar Ataxia 41 1
              Spinocerebellar Ataxia 42 1
              Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
              Spinocerebellar Ataxia 43 1
              Spinocerebellar Ataxia 47 1
              Spinocerebellar Ataxia 48 2
              autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
              dentatorubral-pallidoluysian atrophy 1
              hypomyelinating leukoencephalopathy 0
              spinocerebellar ataxia 44 1
              spinocerebellar ataxia 45 2
              spinocerebellar ataxia 46 1
              spinocerebellar ataxia type 1 1
              spinocerebellar ataxia type 10 1
              spinocerebellar ataxia type 11 1
              spinocerebellar ataxia type 12 1
              spinocerebellar ataxia type 13 1
              spinocerebellar ataxia type 14 1
              spinocerebellar ataxia type 15 3
              spinocerebellar ataxia type 17 9
              spinocerebellar ataxia type 18 0
              spinocerebellar ataxia type 19/22 2
              spinocerebellar ataxia type 2 1
              spinocerebellar ataxia type 20 0
              spinocerebellar ataxia type 21 2
              spinocerebellar ataxia type 23 1
              spinocerebellar ataxia type 25 0
              spinocerebellar ataxia type 26 1
              spinocerebellar ataxia type 27 1
              spinocerebellar ataxia type 28 1
              spinocerebellar ataxia type 29 9
              spinocerebellar ataxia type 30 0
              spinocerebellar ataxia type 31 2
              spinocerebellar ataxia type 34 1
              spinocerebellar ataxia type 35 1
              spinocerebellar ataxia type 36 1
              spinocerebellar ataxia type 37 1
              spinocerebellar ataxia type 38 1
              spinocerebellar ataxia type 4 1
              spinocerebellar ataxia type 40 1
              spinocerebellar ataxia type 5 1
              spinocerebellar ataxia type 6 1
              spinocerebellar ataxia type 7 1
              spinocerebellar ataxia type 8 0
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            movement disease 1001
              Dyskinesias 711
                Ataxia 300
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal dominant cerebellar ataxia 63
                        GRID2-related spinocerebellar ataxia 0
                        Machado-Joseph disease + 5
                        Spinocerebellar Ataxia 32 0
                        Spinocerebellar Ataxia 41 1
                        Spinocerebellar Ataxia 42 1
                        Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits 1
                        Spinocerebellar Ataxia 43 1
                        Spinocerebellar Ataxia 47 1
                        Spinocerebellar Ataxia 48 2
                        autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
                        dentatorubral-pallidoluysian atrophy 1
                        hypomyelinating leukoencephalopathy 0
                        spinocerebellar ataxia 44 1
                        spinocerebellar ataxia 45 2
                        spinocerebellar ataxia 46 1
                        spinocerebellar ataxia type 1 1
                        spinocerebellar ataxia type 10 1
                        spinocerebellar ataxia type 11 1
                        spinocerebellar ataxia type 12 1
                        spinocerebellar ataxia type 13 1
                        spinocerebellar ataxia type 14 1
                        spinocerebellar ataxia type 15 3
                        spinocerebellar ataxia type 17 9
                        spinocerebellar ataxia type 18 0
                        spinocerebellar ataxia type 19/22 2
                        spinocerebellar ataxia type 2 1
                        spinocerebellar ataxia type 20 0
                        spinocerebellar ataxia type 21 2
                        spinocerebellar ataxia type 23 1
                        spinocerebellar ataxia type 25 0
                        spinocerebellar ataxia type 26 1
                        spinocerebellar ataxia type 27 1
                        spinocerebellar ataxia type 28 1
                        spinocerebellar ataxia type 29 9
                        spinocerebellar ataxia type 30 0
                        spinocerebellar ataxia type 31 2
                        spinocerebellar ataxia type 34 1
                        spinocerebellar ataxia type 35 1
                        spinocerebellar ataxia type 36 1
                        spinocerebellar ataxia type 37 1
                        spinocerebellar ataxia type 38 1
                        spinocerebellar ataxia type 4 1
                        spinocerebellar ataxia type 40 1
                        spinocerebellar ataxia type 5 1
                        spinocerebellar ataxia type 6 1
                        spinocerebellar ataxia type 7 1
                        spinocerebellar ataxia type 8 0
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.