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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 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;   ICD9CM:333.4;   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 IMP
ISO
RGD PMID:152600, PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:57,254,421...57,267,002
Ensembl chr 5:57,254,421...57,267,002
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004, PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249, PMID:17885687, PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929, PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160, PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:21651979, PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA
RGD PMID:19115380, PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
JBrowse link
G Cntf ciliary neurotrophic factor treatment IDA
ISO
human gene in a cynomolgus monkey model RGD PMID:12040055, PMID:9121555 RGD:628474, RGD:734795 NCBI chr 1:229,599,009...229,601,032
Ensembl chr 1:229,599,009...229,601,032
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO
IEP
protein:decreased phosphorylation:neuron: RGD PMID:11967539, PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Crebbp CREB binding protein treatment
disease_progression
ISO protein:altered localization:nucleus RGD PMID:19291221, PMID:20448484, PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex
RGD PMID:25568121, PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:100,936,834...101,157,511
Ensembl chr 4:100,936,978...101,156,576
JBrowse link
G Drd1 dopamine receptor D1 IEP
ISS
ISO
OMIM:143100
protein:decreased expression:cerebral cortex (mouse)
MouseDO PMID:18815258, PMID:16905556, PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:47,206,892...47,213,785
Ensembl chr 1:47,206,895...47,213,749
JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270, PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,287,875...1,304,822
Ensembl chr  X:1,297,099...1,304,822
JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:134,852,899...134,872,095
Ensembl chr 5:134,852,875...134,871,775
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510, PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,656,000...62,664,467
Ensembl chr10:62,656,000...62,664,466
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280, PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:45,439,268...45,446,952
Ensembl chr17:45,439,268...45,446,907
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)
RGD PMID:17409241, PMID:15742215, PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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:17409241, PMID:15742215, PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment
disease_progression
ISO RGD PMID:23489026, PMID:15306259, PMID:25160573, PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr 1:151,207,846...151,785,038
Ensembl chr 1:151,439,409...151,783,392
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:7,045,145...7,059,227
Ensembl chr 6:7,045,152...7,058,314
JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association
ISO DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple
RGD PMID:18192679, PMID:24324398, PMID:26000918, PMID:20512606, PMID:22402331, PMID:22698993, PMID:18192679 RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr10:88,257,975...88,266,210
Ensembl chr10:88,257,976...88,266,210
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830, PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830, PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:139,280,396...139,319,108
Ensembl chr 7:139,281,187...139,318,455
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO human gene in a mouse model
protein:decreased expression:liver (mouse)
RGD PMID:16051598, PMID:19443488, PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:44,989,401...44,993,261
Ensembl chr 8:44,990,014...44,993,179
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Htt huntingtin onset
treatment
ISO
IMP
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG(human)
mRNA:altered expression:cortex, striatum:
CTD
OMIM
PMID:15218539, PMID:15312898, PMID:16137562, PMID:17018277, PMID:17925440, PMID:18831068, PMID:19094060, PMID:19476553, PMID:20929960, PMID:21867705, PMID:28111121, PMID:8898202, PMID:12620967, PMID:21163446, PMID:26938440, PMID:8242074, PMID:17940007, PMID:25062733, PMID:22731249 RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:53,664,638...53,731,779
Ensembl chr11:53,664,638...53,731,779
JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443, PMID:15371744, PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:117,574,136...117,599,849
Ensembl chr 8:117,574,161...117,599,848
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO
IEP
protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)
RGD PMID:21145001, PMID:9761455, PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment
ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)
RGD PMID:19646509, PMID:18327563, PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:62,014,995...62,015,095
Ensembl chr10:62,014,995...62,015,095
JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:62,299,592...62,299,686
Ensembl chr10:62,299,592...62,299,686
JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:118,277,684...118,277,795
Ensembl chr  X:118,277,684...118,277,795
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366, PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr16:50,339,358...50,358,809
Ensembl chr16:50,339,358...50,358,809
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:9,965,323...10,004,650
Ensembl chr 4:9,966,891...10,002,247
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npy neuropeptide Y onset
no_association
ISO
IEP
DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)
RGD PMID:24121255, PMID:1710657, PMID:23697793, PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
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:6771173, RGD:6770890 NCBI chr 4:57,335,732...57,445,317
Ensembl chr 4:57,378,069...57,445,341
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:36,851,035...36,912,272
Ensembl chr11:36,851,038...36,912,229
JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:222,207,887...222,224,993
Ensembl chr 1:222,209,575...222,224,910
JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISS OMIM:143100 MouseDO NCBI chr20:7,818,289...7,883,482
Ensembl chr20:7,818,289...7,885,333
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
severity
no_association
treatment
ISO
IEP
IDA
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:22589246, PMID:22813864, PMID:21211002, PMID:21757867, PMID:19133136, PMID:24383721, PMID:21595933, PMID:19133136, PMID:21493629, PMID:17018277, PMID:20736066, PMID:17018277, PMID:17018277, PMID:21651979 RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:86,303,727...86,312,770
Ensembl chr10:86,303,727...86,312,762
JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus
RGD PMID:20089533, PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 4:29,976,485...30,247,371
Ensembl chr 4:29,978,739...30,241,911
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus
RGD PMID:21768291, PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 2:54,857,688...54,893,404
Ensembl chr 2:54,857,688...54,893,404
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:198,544,262...198,559,556
Ensembl chr 1:198,544,262...198,559,568
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 2:196,495,867...196,527,412
Ensembl chr 2:196,495,867...196,527,127
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Sirt1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex
RGD PMID:22179316, PMID:9949199, PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675, PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,639,036...128,716,061
Ensembl chr 6:128,641,214...128,727,374
JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933, PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:9,689,214...9,702,353
Ensembl chr 9:9,689,475...9,702,306
JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:83,878,757...83,885,791
Ensembl chr14:83,878,295...83,887,584
JBrowse link
G Ucp1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979, PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr19:24,456,976...24,464,808
Ensembl chr19:24,456,976...24,464,807
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044
JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:53,651,529...53,715,007
Ensembl chr 7:53,653,116...53,714,879
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 OMIM
ClinVar
PMID:1351274, PMID:1353341, PMID:1357663, PMID:1363809, PMID:1363810, PMID:1404799, PMID:1439789, PMID:1469441, PMID:1671440, PMID:1672296, PMID:1674033, PMID:1677164, PMID:1682813, PMID:1684089, PMID:1684755, PMID:1684758, PMID:1798423, PMID:1971924, PMID:1975028, PMID:2180366, PMID:2190844, PMID:2253724, PMID:2378641, PMID:2564168, PMID:2572450, PMID:2783132, PMID:2812321, PMID:7902693, PMID:7902971, PMID:7908444, PMID:7916462, PMID:7936296, PMID:7954833, PMID:7999318, PMID:8105682, PMID:8137139, PMID:8461023, PMID:8618678, PMID:8698234, PMID:8939199, PMID:9270595, PMID:9279329, PMID:9482303, PMID:9531435, PMID:9643750, PMID:9653185, PMID:9748018, PMID:9751723, PMID:9789072, PMID:9813003, PMID:10079068, PMID:10090891, PMID:10360778, PMID:10437852, PMID:10526198, PMID:10581230, PMID:10588836, PMID:10612329, PMID:10665501, PMID:10889050, PMID:10953203, PMID:11488277, PMID:11506406, PMID:11506411, PMID:11749972, PMID:11756597, PMID:11839833, PMID:11840201, PMID:11967261, PMID:12372829, PMID:12420099, PMID:12451207, PMID:12601712, PMID:12690204, PMID:12813570, PMID:12815603, PMID:12867116, PMID:12891686, PMID:14520676, PMID:14562104, PMID:14610121, PMID:14761942, PMID:14872044, PMID:14967768, PMID:14970845, PMID:15277640, PMID:15366237, PMID:15539564, PMID:15557533, PMID:15987701, PMID:16217673, PMID:16227536, PMID:16313190, PMID:16315279, PMID:16369046, PMID:16391566, PMID:16565881, PMID:16939293, PMID:16969862, PMID:17013786, PMID:17029785, PMID:17494694, PMID:18955686, PMID:19696976, PMID:19703264, PMID:19923577, PMID:20038778, PMID:20139714, PMID:20514992, PMID:20541558, PMID:20583301, PMID:20592908, PMID:20593190, PMID:20697057, PMID:21269331, PMID:21298055, PMID:21839748, PMID:21909425, PMID:22072968, PMID:22097954, PMID:22108575, PMID:22318125, PMID:22561193, PMID:22584955, PMID:22947063, PMID:22999564, PMID:23132868, PMID:23176099, PMID:23296137, PMID:23527023, PMID:23555862, PMID:23723004, PMID:24583440, PMID:24838726, PMID:25064618, PMID:25279981, PMID:25482600, PMID:25522698, PMID:25741868, PMID:25959220, PMID:26268049, PMID:26488179, PMID:26578040, PMID:26791950, PMID:27341347, PMID:27350609, PMID:27803826, PMID:28492532, PMID:29382530 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Diseases of the Aged 1249
      dementia 670
        Huntington's disease 145
          Huntington's Disease-Like 3 0
          Huntington's disease-like 1 1
          Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              cognitive disorder 1915
                dementia 670
                  Huntington's disease 145
                    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.