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
Accession: DOID:12858
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 .
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Htt
huntingtin
onset treatment
ISO IMP
ClinVar Annotator: match by term: Huntington disease CTD Direct Evidence: marker/mechanism DNA:repeats:cds:CAG(human) mRNA:altered expression:cortex, striatum:
ClinVar CTD OMIM
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 PMID:18831068 PMID:19094060 PMID:19476553 PMID:20929960 PMID:21867705 PMID:25741868 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 Ensembl chr 4:79,557,854...79,565,097
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:19464273
RGD:10412729
NCBI chr 1:48,880,015...50,069,998
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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:11709001 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:18425766 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 PMID:29458424 PMID:29887139
NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all