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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 21 - 30 of 50 in total
Gene ID Gene Symbol Description Source
14812 Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2)
14854 Gss glutathione synthetase
15499 Hsf1 heat shock factor 1
16194 Il6ra interleukin 6 receptor, alpha
16438 Itpr1 inositol 1,4,5-trisphosphate receptor 1
16846 Lep leptin
17196 Mbp myelin basic protein
17395 Mmp9 matrix metallopeptidase 9
17756 Map2 microtubule-associated protein 2
17773 Mtnr1a melatonin receptor 1A
Displaying entries 1 - 10 of 31 in total
Gene ID Gene Symbol Description Source
24180 Agtr1a angiotensin II receptor, type 1a
24225 Bdnf brain-derived neurotrophic factor
24409 Grin2a glutamate ionotropic receptor NMDA type subunit 2A
24410 Grin2b glutamate ionotropic receptor NMDA type subunit 2B
24596 Ngfr nerve growth factor receptor
24600 Nos3 nitric oxide synthase 3
25262 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1
25385 Faslg Fas ligand
25425 Ctsh cathepsin H
25495 Nog noggin
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 11 - 20 of 44 in total
HPO ID HPO Term
HP:0000746 Delusion
HP:0001250 Seizure
HP:0001262 Excessive daytime somnolence
HP:0001268 Mental deterioration
HP:0001288 Gait disturbance
HP:0001332 Dystonia
HP:0001336 Myoclonus
HP:0001347 Hyperreflexia
HP:0001824 Weight loss
HP:0002059 Cerebral atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
6515 SLC2A3 solute carrier family 2 member 3
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Acknowledgements

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

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Last updated: December 9, 2024