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Standards Ontologies Notations
Huntington's disease

Summary
Synonym
  • HD
  • Huntington disease
  • Huntington's chorea
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.
Super Class
neurodegenerative disease
Disease Ontology
DOID:12858
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 77 in total
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
185 AGTR1 angiotensin II receptor type 1
337 APOA4 apolipoprotein A4
355 FAS Fas cell surface death receptor
356 FASLG Fas ligand
581 BAX BCL2 associated X, apoptosis regulator
590 BCHE butyrylcholinesterase
627 BDNF brain derived neurotrophic factor
Displaying entries 1 - 10 of 50 in total
Gene ID Gene Symbol Description Source
11423 Ache acetylcholinesterase
11607 Agtr1a angiotensin II receptor, type 1a
11608 Agtr1b angiotensin II receptor, type 1b
11909 Atf2 activating transcription factor 2
12028 Bax BCL2-associated X protein
12038 Bche butyrylcholinesterase
12064 Bdnf brain derived neurotrophic factor
12371 Casp9 caspase 9
12802 Cnr2 cannabinoid receptor 2
13036 Ctsh cathepsin H
Displaying entries 21 - 30 of 31 in total
Gene ID Gene Symbol Description Source
81638 Agtr1b angiotensin II receptor, type 1b
81646 Creb1 cAMP responsive element binding protein 1
81647 Atf2 activating transcription factor 2
81687 Mmp9 matrix metallopeptidase 9
83516 Ppargc1a PPARG coactivator 1 alpha
83619 Nfe2l2 NFE2 like bZIP transcription factor 2
83817 Ache acetylcholinesterase
246097 Fas Fas cell surface death receptor
288498 Wipi2 WD repeat domain, phosphoinositide interacting 2
293504 Qprt quinolinate phosphoribosyltransferase
Displaying all 6 entries
Gene ID Gene Symbol Description Source
36382 Sin3A Sin3A
41625 Ace Acetylcholine esterase
41726 Dop1R1 Dopamine 1-like receptor 1
42795 VAChT Vesicular acetylcholine transporter
140439 Tre1 Trapped in endoderm 1
3355109 Parp1 Poly-(ADP-ribose) polymerase 1
Displaying all 7 entries
Gene ID Gene Symbol Description Source
30173 nog3 noggin 3
30174 nog1 noggin 1
30667 mtnr1aa melatonin receptor 1A a
114549 ache acetylcholinesterase (Yt blood group)
394082 slc18a3b solute carrier family 18 member 3b
559347 slc18a3a solute carrier family 18 member 3a
560788 parp1 poly (ADP-ribose) polymerase 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source Organism
373646 nog.L noggin L homeolog Xenopus laevis (African clawed frog)
378693 npy2r.S neuropeptide Y receptor Y2 S homeolog Xenopus laevis (African clawed frog)
398763 agtr1.L angiotensin II receptor type 1 L homeolog Xenopus laevis (African clawed frog)
493191 nog noggin Xenopus tropicalis (tropical clawed frog)
100127346 grin2a.L glutamate receptor, ionotropic, N-methyl D-aspartate 2A L homeolog Xenopus laevis (African clawed frog)
108704141 nog.S noggin S homeolog Xenopus laevis (African clawed frog)
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
171905 ace-2 Carboxylic ester hydrolase
175076 ace-3 Carboxylic ester hydrolase
175383 zmp-2 Matrix metalloproteinase-B
176204 glr-1 Glutamate receptor 1
177343 skn-1 BZIP domain-containing protein;Protein skinhead-1
177882 glt-3 Putative sodium-dependent excitatory amino acid transporter glt-3
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179199 timp-1 NTR domain-containing protein
179246 atg-18 Autophagy-related protein 18
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
Displaying all 8 entries
Gene ID Gene Symbol Description Source
850399 SNT1 Snt1p
850577 ATG18 phosphoinositide binding protein ATG18
850608 BNA6 nicotinate-nucleotide diphosphorylase (carboxylating)
852806 HSF1 stress-responsive transcription factor HSF1
854158 SIN3 transcriptional regulator SIN3
854199 AKR2 putative palmitoyltransferase AKR2
856004 ATG21 Atg21p
856014 GLR1 glutathione-disulfide reductase GLR1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 44 in total
HPO ID HPO Term
HP:0002375 Hypokinesia
HP:0002500 Abnormal cerebral white matter morphology
HP:0002540 Inability to walk
HP:0002591 Polyphagia
HP:0003107 Abnormal circulating cholesterol concentration
HP:0003324 Generalized muscle weakness
HP:0003487 Babinski sign
HP:0004305 Involuntary movements
HP:0004408 Abnormality of the sense of smell
HP:0007010 Poor fine motor coordination
Displaying 1 entry
Gene ID Gene Symbol Description
6515 SLC2A3 solute carrier family 2 member 3
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024