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ONTOLOGY REPORT - ANNOTATIONS


Term:Huntington's disease
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Accession:DOID:12858 term browser browse the term
Definition:A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Synonyms:exact_synonym: HD;   Huntington Chronic Progressive Hereditary Chorea;   Huntington Disease;   Huntington Disease, Akinetic Rigid Variant;   Huntington chorea;   Huntington's Chorea;   Juvenile Huntington Disease;   akinetic rigid variant of Huntington disease;   juvenile onset Huntington disease;   late onset Huntington disease
 primary_id: MESH:D006816
 alt_id: OMIM:143100;   RDO:0002347
 xref: GARD:6677;   NCI:C82342
For additional species annotation, visit the Alliance of Genome Resources.


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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 Bcl2 associated athanogene 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:8554872
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 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 dehydrogenase 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 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 containing 13 JBrowse link 1 104,106,211 104,145,045 RGD:13592920
G Zdhhc17 zinc finger, DHHC-type containing 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Diseases of the Aged 1171
      dementia 618
        Huntington's disease 143
          Huntington's Disease-Like 3 0
          Huntington's disease-like 1 1
          Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              cognitive disorder 1843
                dementia 618
                  Huntington's disease 143
                    Huntington's Disease-Like 3 0
                    Huntington's disease-like 1 1
                    Westphal Disease 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.