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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Huntington's disease
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Accession:DOID:12858 term browser browse the term
Definition:A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)
Synonyms:exact_synonym: HD;   Huntington Chronic Progressive Hereditary Chorea;   Huntington Disease, Akinetic Rigid Variant;   Huntington chorea;   Huntington disease;   Huntington's chorea;   akinetic rigid variant of Huntington disease;   juvenile Huntington disease;   juvenile onset Huntington disease;   late onset Huntington disease
 primary_id: MESH:D006816
 alt_id: MIM:143100
 xref: EFO:0000533;   GARD:6677;   ICD9CM:333.4;   MONDO:0007739;   NCI:C147072;   NCI:C82342
For additional species annotation, visit the Alliance of Genome Resources.

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Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:152600 PMID:6237280 RGD:10046047 RGD:10047058 NCBI chr 5:8,274,310...8,380,973
Ensembl chr 5:8,315,952...8,379,549 		JBrowse link
G ACHE acetylcholinesterase (Cartwright blood group) ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr15:41,957,826...42,002,776 JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095 		JBrowse link
G APOA4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698 		JBrowse link
G ATF2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr10:60,644,623...60,734,465
Ensembl chr10:60,644,635...60,734,475 		JBrowse link
G ATF5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 6:43,085,634...43,090,234
Ensembl chr 6:43,084,665...43,091,751 		JBrowse link
G ATRX ATRX chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:66,449,830...66,737,220
Ensembl chr  X:66,448,449...66,737,164 		JBrowse link
G BAG1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr12:47,006,177...47,016,177 JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:11299004 PMID:18938217 RGD:10054041 RGD:10054048 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCHE butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO RGD PMID:11299004 RGD:10054041 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:17885687 PMID:18093249 PMID:19499586 RGD:10058981 RGD:10059353 RGD:10415531 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:10413886 RGD:13432082 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CASP9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:		 RGD PMID:12095160 RGD:13432083 NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930 		JBrowse link
G CAT catalase ISO protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:17213233 PMID:21651979 RGD:10401191 RGD:6484269 NCBI chr 6:28,342,506...28,345,759
Ensembl chr 6:28,343,907...28,344,977 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 2:13,780,538...13,782,639
Ensembl chr 2:13,781,160...13,782,194 		JBrowse link
G CHAT choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr 9:42,159,367...42,216,137
Ensembl chr 9:42,162,601...42,214,705 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr29:8,777,202...8,781,027
Ensembl chr29:8,777,436...8,781,030 		JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:19115380 RGD:2316196 NCBI chr20:108,777,793...108,815,738
Ensembl chr20:108,813,579...108,814,661 		JBrowse link
G CNTF ciliary neurotrophic factor treatment ISO human gene in a cynomolgus monkey model RGD PMID:9121555 PMID:12040055 RGD:628474 RGD:734795 NCBI chr 1:14,724,562...14,730,698
Ensembl chr 1:14,728,383...14,730,150 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:10059577 RGD:734817 NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832 		JBrowse link
G CREBBP CREB binding protein treatment
disease_progression		 ISO protein:altered localization:nucleus RGD PMID:11264541 PMID:19291221 PMID:20448484 RGD:10059583 RGD:13432093 RGD:13432094 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CTSH cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex 		RGD PMID:24728190 PMID:25568121 RGD:13432154 RGD:13432155 NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867 		JBrowse link
G DNAH6 dynein axonemal heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr14:22,357,139...22,712,614
Ensembl chr14:22,357,102...22,659,471 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 PMID:18815258 RGD:2302117 RGD:5686414 RGD:7248682 NCBI chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414 RGD:7248682 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G DRD3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690 		JBrowse link
G DRD5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr27:40,267,681...40,270,061
Ensembl chr27:40,268,235...40,269,671 		JBrowse link
G DUSP1 dual specificity phosphatase 1 treatment ISO RGD PMID:23392662 RGD:7771544 NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532 		JBrowse link
G E2F1 E2F transcription factor 1 ISO protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326 		JBrowse link
G EGFR epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EGR1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345 RGD:10395348 NCBI chr14:70,246,081...70,290,851
Ensembl chr14:70,247,168...70,296,463 		JBrowse link
G ELK1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914
G EP300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G FASLG Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FOXP1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)		 RGD PMID:16405510 RGD:11560524 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr11:6,569,029...6,572,877 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		JBrowse link
G GIT1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr16:23,313,629...23,329,665
Ensembl chr16:23,315,439...23,329,469 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G GLUL glutamate-ammonia ligase ISO RGD PMID:3159462 PMID:6237280 RGD:10046047 RGD:13524508 NCBI chr25:46,988,853...46,998,112
Ensembl chr25:46,989,205...47,000,555 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GPX6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:44,046,748...44,058,881 JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr13:71,855,960...72,545,376
Ensembl chr13:71,855,794...72,325,857 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs8057394, rs2650427 (human)
DNA:SNPs: :rs1969060 (human)		 RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)		 RGD PMID:15742215 PMID:17409241 PMID:17569088 RGD:13432195 RGD:13432554 RGD:13432556 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G GRM5 glutamate metabotropic receptor 5 disease_progression
treatment		 ISO RGD PMID:15306259 PMID:23489026 PMID:24282028 PMID:25160573 RGD:13432158 RGD:13432558 RGD:13432561 RGD:13432562 NCBI chr 1:79,636,636...80,206,471 JBrowse link
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:11490092 RGD:10401927 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO RGD PMID:2527078 RGD:13524507 NCBI chr14:64,460,553...64,485,731
Ensembl chr14:64,460,703...64,485,378 		JBrowse link
G HAP1 huntingtin associated protein 1 no_association
onset		 ISO DNA:SNP:multiple
DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)		 RGD PMID:18192679 PMID:20512606 PMID:22402331 PMID:22698993 PMID:24324398 More... RGD:10401859 RGD:13432575 RGD:13432576 RGD:13432577 RGD:13432578 RGD:13432579 NCBI chr16:64,515,013...64,524,270 JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:cerebral cortex
protein:increased expression:striatum:		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556 		JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex		 RGD PMID:22918830 PMID:22965876 RGD:10402189 RGD:9590098 NCBI chr23:44,246,296...44,263,127 JBrowse link
G HDAC7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr11:44,002,616...44,040,766
Ensembl chr11:44,003,736...44,039,902 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686 		JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr10:22,188,151...22,238,665
Ensembl chr10:22,188,110...22,238,671 		JBrowse link
G HPCA hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr20:99,974,952...99,983,194
Ensembl chr20:99,975,742...99,980,728 		JBrowse link
G HSF1 heat shock transcription factor 1 treatment ISO protein:decreased expression:liver (mouse)
human gene in a mouse model		 RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372 RGD:10402386 RGD:10402387 NCBI chr 8:138,503,836...138,529,562
Ensembl chr 8:138,503,831...138,529,165 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 1:114,447,348...114,452,693
Ensembl chr 1:114,446,544...114,451,562 		JBrowse link
G HTRA2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr14:32,745,436...32,749,176
Ensembl chr14:32,743,708...32,748,577 		JBrowse link
G HTT huntingtin onset
treatment		 ISO ClinVar Annotator: match by term: Huntington disease
DNA:repeats:cds:CAG (human)		 OMIM
ClinVar
RGD		 PMID:8242074 PMID:17940007 PMID:25741868 PMID:26740508 PMID:28492532 RGD:10403026 RGD:10403029 NCBI chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621 		JBrowse link
G IFT57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr22:72,560,168...72,629,066
Ensembl chr22:72,560,221...72,632,158 		JBrowse link
G IFT88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO human protein in a rat model RGD PMID:15371744 PMID:23384443 PMID:25140802 RGD:10045865 RGD:10045870 RGD:12904970 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL6R interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)		 RGD PMID:9761455 PMID:19193873 PMID:21145001 RGD:6480685 RGD:6480875 RGD:6483009 NCBI chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G KDM5C lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:49,306,472...49,356,151
Ensembl chr  X:49,321,173...49,356,100 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G LEP leptin ISO protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LOC103226354 cytochrome c severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr21:33,251,825...33,253,298 JBrowse link
G MAOA monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:40,834,158...40,920,404
Ensembl chr  X:40,834,159...40,920,444 		JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:40,936,789...41,054,547
Ensembl chr  X:40,936,711...41,054,641 		JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr10:95,319,649...95,431,106
Ensembl chr10:95,349,157...95,431,320 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 treatment
onset		 ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)		 RGD PMID:18327563 PMID:19646509 RGD:10412311 RGD:10412314 NCBI chr13:36,614,489...36,858,524
Ensembl chr13:36,615,633...36,858,601 		JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MSH2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819 		JBrowse link
G MTNR1A melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 RGD:9686058 NCBI chr 7:132,423,619...132,445,881
Ensembl chr 7:132,424,052...132,444,860 		JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr21:72,174,451...72,224,932
Ensembl chr21:72,178,041...72,224,559 		JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr16:15,442,315...15,629,411
Ensembl chr16:15,462,640...15,628,512 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498 		JBrowse link
G NGFR nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189 		JBrowse link
G NOG noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NPY neuropeptide Y no_association
onset		 ISO DNA:SNP: :rs16147 (human)
DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus		 RGD PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606 RGD:10433112 RGD:10433553 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127 		JBrowse link
G NPY2R neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 7:101,696,081...101,773,782
Ensembl chr 7:101,770,551...101,771,696 		JBrowse link
G NRF1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)		 RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr21:98,227,088...98,377,095
Ensembl chr21:98,268,395...98,377,096 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr22:45,757,414...45,763,690 JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PCP4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr 2:83,791,520...83,855,289
Ensembl chr 2:83,791,458...83,855,336 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:25315303 RGD:243048432 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157 		JBrowse link
G PLCB3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:9,964,850...9,982,573
Ensembl chr 1:9,966,618...9,982,317 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr16:6,860,487...6,889,054
Ensembl chr16:6,860,677...6,888,618 		JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO OMIM:143100 MouseDO NCBI chr17:36,695,546...36,779,554
Ensembl chr17:36,695,494...36,779,577 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment
onset
severity
no_association		 ISO mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)
DNA:snps, haplotypes:multiple (human)
protein:increased expression:brain (human)
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:subthalamic nucleus (rat)		 RGD PMID:17018277 PMID:19133136 PMID:20736066 PMID:21211002 PMID:21493629 More... RGD:10053648 RGD:10053650 RGD:10053656 RGD:10053663 RGD:10395289 RGD:10395290 RGD:10395291 RGD:6484259 RGD:6484269 RGD:6770890 RGD:7242018 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:18502785 RGD:13515080 NCBI chr16:66,530,640...66,541,025
Ensembl chr16:66,530,488...66,541,242 		JBrowse link
G PPP1R9A protein phosphatase 1 regulatory subunit 9A ISO mRNA:decreased expression:caudate nucleus
mRNA:decreased expression:striatum(mouse)		 RGD PMID:20089533 RGD:10043799 NCBI chr21:53,744,202...54,129,709
Ensembl chr21:53,747,857...54,127,005 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:altered localization:nucleus
protein:increased phosphorylation, altered localization:nucleus		 RGD PMID:21768291 RGD:6484534 NCBI chr 4:39,516,307...39,553,627 JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr13:88,856,056...90,329,379 JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21362433 RGD:5508227 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO RGD PMID:2527078 RGD:13524507 NCBI chr 5:26,953,980...26,970,120
Ensembl chr 5:26,950,391...26,970,079 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr 2:78,561,212...78,658,023
Ensembl chr 2:78,562,795...78,571,498 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159
G SIN3A SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr26:7,971,208...8,060,888
Ensembl chr26:7,975,484...8,058,278 		JBrowse link
G SIRT1 sirtuin 1 ISO protein:decreased expression:frontal cortex
human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)		 RGD PMID:9949199 PMID:18538940 PMID:22179316 RGD:10395240 RGD:9585998 RGD:9586004 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:striatum
mRNA, protein:decreased expression:brain, spinal cord		 RGD PMID:16987871 RGD:5686805 NCBI chr 9:42,216,187...42,219,665
Ensembl chr 9:42,216,568...42,218,166 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194 RGD:13432195 NCBI chr 1:29,845,512...30,012,261
Ensembl chr 1:29,847,043...29,989,975 		JBrowse link
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr17:27,934,537...27,949,120
Ensembl chr17:27,931,945...27,949,006 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 2:20,340,163...20,345,873
Ensembl chr 2:20,342,681...20,346,122 		JBrowse link
G SYNE3 spectrin repeat containing nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr24:73,269,177...73,369,676
Ensembl chr24:73,269,163...73,354,553 		JBrowse link
G TBP TATA-box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:20529956 PMID:21595933 RGD:6770890 RGD:6771173 NCBI chr 9:72,900,665...72,914,634
Ensembl chr 9:72,904,637...72,914,397 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		JBrowse link
G TRIP10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 6:6,308,678...6,321,141
Ensembl chr 6:6,308,666...6,320,255 		JBrowse link
G UCP1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:17055784 PMID:20561979 RGD:10045649 RGD:10045650 NCBI chr 7:87,492,444...87,502,894
Ensembl chr 7:87,492,195...87,502,665 		JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450 		JBrowse link
G XPO5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr17:28,585,317...28,637,045
Ensembl chr17:28,585,536...28,635,519 		JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO OMIM:143100 MouseDO NCBI chr 1:45,819,877...45,873,302
Ensembl chr 1:45,820,339...45,854,299 		JBrowse link
G ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 ISO OMIM:143100 MouseDO NCBI chr11:72,341,708...72,431,178
Ensembl chr11:72,342,335...72,431,675 		JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM33 ADAM metallopeptidase domain 33 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,352,514...34,366,694
Ensembl chr 2:34,353,505...34,366,559 		JBrowse link
G ADISSP adipose secreted signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,434,077...34,449,254
Ensembl chr 2:34,430,912...34,440,681 		JBrowse link
G ADRA1D adrenoceptor alpha 1D ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,859,651...34,888,684
Ensembl chr 2:34,860,483...34,887,779 		JBrowse link
G AP5S1 adaptor related protein complex 5 subunit sigma 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,494,318...34,514,074
Ensembl chr 2:34,508,315...34,514,299 		JBrowse link
G ATRN attractin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,157,240...34,335,902
Ensembl chr 2:34,157,293...34,335,923 		JBrowse link
G AVP arginine vasopressin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,761,066...33,764,608
Ensembl chr 2:33,761,140...33,763,172 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G CDC25B cell division cycle 25B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,482,709...34,493,737
Ensembl chr 2:34,483,771...34,494,071 		JBrowse link
G CDS2 CDP-diacylglycerol synthase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,867,065...32,936,456
Ensembl chr 2:32,874,699...32,935,813 		JBrowse link
G CENPB centromere protein B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,469,577...34,472,261
Ensembl chr 2:34,470,410...34,472,221 		JBrowse link
G CHGB chromogranin B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,210,079...32,224,123
Ensembl chr 2:32,209,433...32,224,204 		JBrowse link
G CPXM1 carboxypeptidase X, M14 family member 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,747,355...53,753,899
Ensembl chr 2:53,747,441...53,754,750 		JBrowse link
G CRLS1 cardiolipin synthase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,094,610...32,127,186
Ensembl chr 2:32,091,519...32,127,170 		JBrowse link
G DDRGK1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,846,591...33,879,770
Ensembl chr 2:33,860,439...33,880,101 		JBrowse link
G DNAAF9 dynein axonemal assembly factor 9 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,920,749...34,084,805
Ensembl chr 2:33,920,689...34,084,953 		JBrowse link
G EBF4 EBF family member 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,786,397...53,850,935
Ensembl chr 2:53,794,161...53,838,668 		JBrowse link
G FASTKD5 FAST kinase domains 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,818,942...33,832,154 JBrowse link
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,006,824...32,060,838
Ensembl chr 2:32,009,615...32,062,211 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532
G GPCPD1 glycerophosphocholine phosphodiesterase 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,522,953...32,585,204
Ensembl chr 2:32,523,236...32,584,184 		JBrowse link
G HSPA12B heat shock protein family A (Hsp70) member 12B ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,413,697...34,433,678
Ensembl chr 2:34,419,683...34,432,711 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,875,991...53,882,069
Ensembl chr 2:53,875,390...53,881,716 		JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556 		JBrowse link
G LRRN4 leucine rich repeat neuronal 4 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,078,993...32,092,725
Ensembl chr 2:32,083,313...32,091,660 		JBrowse link
G LZTS3 leucine zipper tumor suppressor family member 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,835,361...33,845,948
Ensembl chr 2:33,835,012...33,839,895 		JBrowse link
G MAVS mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,534,433...34,555,406
Ensembl chr 2:34,541,229...34,552,823 		JBrowse link
G MCM8 minichromosome maintenance 8 homologous recombination repair factor ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,137,983...32,181,187
Ensembl chr 2:32,138,173...32,181,179 		JBrowse link
G MRPS26 mitochondrial ribosomal protein S26 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,725,930...33,728,206
Ensembl chr 2:33,726,001...33,727,824 		JBrowse link
G NOP56 NOP56 ribonucleoprotein ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,882,070...53,887,867
Ensembl chr 2:53,882,169...53,887,565 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968 		JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,577,859...34,612,258
Ensembl chr 2:34,578,207...34,611,987 		JBrowse link
G PCED1A PC-esterase domain containing 1A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,522,166...33,528,001
Ensembl chr 2:33,521,667...33,527,476 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,936,600...32,953,635
Ensembl chr 2:32,948,196...32,953,991 		JBrowse link
G PDYN prodynorphin ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,535,516...54,551,085
Ensembl chr 2:54,535,240...54,551,104 		JBrowse link
G PRND prion like protein doppel ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,344,375...33,349,089
Ensembl chr 2:33,344,808...33,345,338 		JBrowse link
G PRNP prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,791,214...32,801,637
Ensembl chr 2:32,793,305...32,801,054 		JBrowse link
G PTPRA protein tyrosine phosphatase receptor type A ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,559,634...33,724,446
Ensembl chr 2:33,559,697...33,722,137 		JBrowse link
G RASSF2 Ras association domain family member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,240,302...33,285,647
Ensembl chr 2:33,240,257...33,281,269 		JBrowse link
G RNF24 ring finger protein 24 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,620,105...34,703,812
Ensembl chr 2:34,622,771...34,658,257 		JBrowse link
G SHLD1 shieldin complex subunit 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,265,882...32,381,411
Ensembl chr 2:32,265,788...32,381,395 		JBrowse link
G SIGLEC1 sialic acid binding Ig like lectin 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,371,605...34,417,105
Ensembl chr 2:34,371,519...34,392,034 		JBrowse link
G SLC23A2 solute carrier family 23 member 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,092,619...33,209,258
Ensembl chr 2:33,128,061...33,212,255 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,897,262...33,911,498
Ensembl chr 2:33,897,630...33,908,039 		JBrowse link
G SMOX spermine oxidase ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,064,240...54,073,341
Ensembl chr 2:54,063,999...54,073,367 		JBrowse link
G SPEF1 sperm flagellar 1 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:34,462,933...34,467,575
Ensembl chr 2:34,462,896...34,466,923 		JBrowse link
G STK35 serine/threonine kinase 35 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,382,703...54,431,658 JBrowse link
G TGM3 transglutaminase 3 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,189,888...54,236,714
Ensembl chr 2:54,189,902...54,221,973 		JBrowse link
G TGM6 transglutaminase 6 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,100,262...54,152,019
Ensembl chr 2:54,101,063...54,139,923 		JBrowse link
G TMC2 transmembrane channel like 2 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:53,903,305...54,002,599
Ensembl chr 2:53,903,842...53,979,535 		JBrowse link
G TMEM230 transmembrane protein 230 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,955,522...32,968,578
Ensembl chr 2:32,955,538...32,969,152 		JBrowse link
G TMEM239 transmembrane protein 239 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,503,509...33,507,085
Ensembl chr 2:33,506,482...33,506,940 		JBrowse link
G TRMT6 tRNA methyltransferase 6 non-catalytic subunit ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:32,181,276...32,195,024
Ensembl chr 2:32,181,279...32,195,019 		JBrowse link
G UBOX5 U-box domain containing 5 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,782,848...33,832,302 JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:33,527,526...33,554,742
Ensembl chr 2:33,527,554...33,557,145 		JBrowse link
G ZNF343 zinc finger protein 343 ISO ClinVar Annotator: match by term: Huntington disease-like 1 ClinVar PMID:28492532 NCBI chr 2:54,030,471...54,053,240 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Diseases of the Aged 1213
      dementia 819
        Huntington's disease 191
          Huntington's Disease-Like 3 0
          Huntington's disease-like 1 57
          Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          brain disease 11073
            disease of mental health 7954
              cognitive disorder 2083
                dementia 819
                  Huntington's disease 191
                    Huntington's Disease-Like 3 0
                    Huntington's disease-like 1 57
                    Westphal Disease 0
paths to the root