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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
External Links
Disease Ontology
DOID:12858
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 87 in total
Gene ID Gene Symbol Description Source
1718 DHCR24 24-dehydrocholesterol reductase
2215 FCGR3B Fc gamma receptor IIIb
2572 GAD2 glutamate decarboxylase 2
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2739 GLO1 glyoxalase I
2752 GLUL glutamate-ammonia ligase
2876 GPX1 glutathione peroxidase 1
2882 GPX7 glutathione peroxidase 7
2997 GYS1 glycogen synthase 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
Displaying all 5 entries
Gene ID Gene Symbol Description Source
16846 Lep leptin
19017 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
22228 Ucp2 uncoupling protein 2 (mitochondrial, proton carrier)
67375 Qprt quinolinate phosphoribosyltransferase
105787 Prkaa1 protein kinase, AMP-activated, alpha 1 catalytic subunit
Displaying all 6 entries
Gene ID Gene Symbol Description Source
25591 Parp1 poly (ADP-ribose) polymerase 1
25608 Lep leptin
54315 Ucp2 uncoupling protein 2
65248 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1
83516 Ppargc1a PPARG coactivator 1 alpha
293504 Qprt quinolinate phosphoribosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
3355109 Parp1 Poly-(ADP-ribose) polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
560788 parp1 poly (ADP-ribose) polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
266823 parp-1 Poly [ADP-ribose] polymerase;Poly [ADP-ribose] polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
850608 BNA6 nicotinate-nucleotide diphosphorylase (carboxylating)
Related Glycoprotein
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: August 19, 2024