Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2147 | F2 | coagulation factor II, thrombin | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 2898 | GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | |
| 2903 | GRIN2A | glutamate ionotropic receptor NMDA type subunit 2A | |
| 2904 | GRIN2B | glutamate ionotropic receptor NMDA type subunit 2B | |
| 3064 | HTT | huntingtin | |
| 3297 | HSF1 | heat shock transcription factor 1 | |
| 3300 | DNAJB2 | DnaJ heat shock protein family (Hsp40) member B2 | |
| 3569 | IL6 | interleukin 6 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13488 | Drd1 | dopamine receptor D1 | |
| 13712 | Elk1 | ELK1, member of ETS oncogene family | |
| 14061 | F2 | coagulation factor II | |
| 14102 | Fas | Fas cell surface death receptor | |
| 14103 | Fasl | Fas ligand | |
| 14609 | Gja1 | gap junction protein, alpha 1 | |
| 14645 | Glul | glutamate-ammonia ligase | |
| 14775 | Gpx1 | glutathione peroxidase 1 | |
| 14782 | Gsr | glutathione reductase | |
| 14811 | Grin2a | glutamate receptor, ionotropic, NMDA2A (epsilon 1) |
| 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 |
| 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 |
| 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) |
| 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 |
| 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
| HPO ID | HPO Term |
|---|---|
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002072 | Chorea |
| HP:0002141 | Gait imbalance |
| HP:0002169 | Clonus |
| HP:0002300 | Mutism |
| HP:0002312 | Clumsiness |
| HP:0002340 | Caudate atrophy |
| HP:0002354 | Memory impairment |
| HP:0002355 | Difficulty walking |
