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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: OMIM: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.


show annotations for term's descendants           Sort by:
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835 		JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:19499586 PMID:17885687 RGD:10058981, RGD:10059353, RGD:10415531 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		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 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		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 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		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 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA		 RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		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 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877 		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 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Crebbp CREB binding protein treatment
disease_progression		 ISO protein:altered localization:nucleus RGD PMID:19291221 PMID:11264541 PMID:20448484 RGD:10059583, RGD:13432093, RGD:13432094 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:33,055,784...33,070,400
Ensembl chr12:33,055,263...33,070,387 		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 chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376 		JBrowse link
G Drd1 dopamine receptor D1 IEP
ISO		 protein:decreased expression:cerebral cortex (mouse) RGD PMID:18815258 PMID:12111832 PMID:16905556 RGD:2302117, RGD:5686414, RGD:7248682 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		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 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:72,489,347...72,490,774
Ensembl chr14:72,489,347...72,490,774 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881 		JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G F2 coagulation factor II ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		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 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs8057394, rs2650427 (human)
DNA:SNPs: :rs1969060 (human)		 RGD PMID:17409241 PMID:17569088 PMID:15742215 RGD:13432195, RGD:13432554, RGD:13432556 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNP: :2664C>T (rs1806201) (human)
DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)		 RGD PMID:17409241 PMID:17569088 PMID:15742215 RGD:13432195, RGD:13432554, RGD:13432556 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment
disease_progression		 ISO RGD PMID:23489026 PMID:24282028 PMID:25160573 PMID:15306259 RGD:13432558, RGD:13432158, RGD:13432561, RGD:13432562 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877 		JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association		 ISO DNA:SNP: :p.T441M (human)
DNA:SNP:multiple
DNA:SNP: :rs4523977 (human)		 RGD PMID:18192679 PMID:18192679 PMID:22698993 PMID:22402331 PMID:20512606 More... RGD:13432575, RGD:13432575, RGD:13432576, RGD:13432577, RGD:13432578, RGD:13432579, RGD:10401859 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126 		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 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		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 chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		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:24381308 PMID:19443488 RGD:10402372, RGD:10402386, RGD:10402387 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095 		JBrowse link
G Htt huntingtin treatment
onset		 ISO
IMP		 mRNA:altered expression:cortex, striatum:
DNA:repeats:cds:CAG (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huntington disease		 OMIM
CTD
ClinVar
RGD		 PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:6902915, RGD:10402938, RGD:10403026, RGD:10403029, RGD:11062152, RGD:11062153, RGD:13452381 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812 		JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443 PMID:25140802 PMID:15371744 RGD:10045865, RGD:10045870, RGD:12904970 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		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:19193873 PMID:9761455 RGD:6480685, RGD:6480875, RGD:6483009 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		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:19646509 PMID:19646509 PMID:18327563 RGD:10412311, RGD:10412311, RGD:10412314 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Meg3 maternally expressed 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796 		JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133 		JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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 chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Npy neuropeptide Y onset
no_association		 ISO
IEP		 DNA:SNP: :rs3037354 (human)
DNA:SNP: :rs16147 (human)
mRNA:decreased expression:hypothalamus		 RGD PMID:24121255 PMID:24121255 PMID:23697793 PMID:1710657 RGD:10431606, RGD:10431606, RGD:10433112, RGD:10433553 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024 		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 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISS OMIM:143100 MouseDO NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment
severity
onset
no_association		 ISO
IDA
IEP		 DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
mRNA:decreased expression:caudate nucleus (human)
mRNA:decreased expression:medium spiny neuron (mouse)
DNA:snps, haplotypes:multiple (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
protein:increased expression:brain (human)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:subthalamic nucleus (rat)		 RGD PMID:22589246 PMID:21651979 PMID:17018277 PMID:17018277 PMID:20736066 More... RGD:6484259, RGD:6484269, RGD:7242018, RGD:7242018, RGD:10053648, RGD:7242018, RGD:10053650, RGD:10053656, RGD:6770890, RGD:10053663, RGD:10053656, RGD:10395289, RGD:10395290, RGD:10395291 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775 		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 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907 		JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		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 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		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 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192 		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:22179316 PMID:18538940 PMID:9949199 RGD:9585998, RGD:9586004, RGD:10395240 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409 		JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799 		JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927 		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 chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:46,369,963...46,433,691
Ensembl chr 7:46,369,988...46,433,764 		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 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES OMIM
ClinVar		 PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Diseases of the Aged 1328
      dementia 739
        Huntington's disease 147
          Huntington's Disease-Like 3 0
          Huntington's disease-like 1 1
          Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            disease of mental health 7590
              cognitive disorder 2056
                dementia 739
                  Huntington's disease 147
                    Huntington's Disease-Like 3 0
                    Huntington's disease-like 1 1
                    Westphal Disease 0
paths to the root