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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 51 - 60 of 77 in total
Gene ID Gene Symbol Description Source
6431 SRSF6 serine and arginine rich splicing factor 6
6506 SLC1A2 solute carrier family 1 member 2
6572 SLC18A3 solute carrier family 18 member A3
6908 TBP TATA-box binding protein
7019 TFAM transcription factor A, mitochondrial
7351 UCP2 uncoupling protein 2
9241 NOG noggin
9322 TRIP10 thyroid hormone receptor interactor 10
9611 NCOR1 nuclear receptor corepressor 1
9869 SETDB1 SET domain bifurcated histone lysine methyltransferase 1
Displaying entries 31 - 40 of 50 in total
Gene ID Gene Symbol Description Source
18024 Nfe2l2 nuclear factor, erythroid derived 2, like 2
18053 Ngfr nerve growth factor receptor (TNFR superfamily, member 16)
18121 Nog noggin
18127 Nos3 nitric oxide synthase 3, endothelial cell
18167 Npy2r neuropeptide Y receptor Y2
19017 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
19225 Ptgs2 prostaglandin-endoperoxide synthase 2
20466 Sin3a transcriptional regulator, SIN3A (yeast)
20511 Slc1a2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
22228 Ucp2 uncoupling protein 2 (mitochondrial, proton carrier)
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 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