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Genes (51)
Species:
human : 51 | |
| Human | FASA | 100192455 | fertility associated sperm antigen | A sperm membrane protein designated as Fertility Associated Sperm Antigen and having 87% homology to Huntington disease protein was found as an open frame showing 99% homology with a part of chromosome 11 | | Human | STH | 246744 | saitohin | Q allele of STH gene is over-represented in a tested group of patients with Huntington disease and might be considered a risk factor for HD like diseases | | Human | GSTO2 | 119391 | glutathione S-transferase omega 2 | Title:Glutathione S-Transferase omega 1 variation does not influence age at onset of Huntington's disease|Association:Not Found|Conclusion:The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD. | | Human | CARD16 | 114769 | caspase recruitment domain family, member 16 | Caspase-1-mediated cell death is regulated, at least in part, by the balance of Rip2 and Cop; alterations of this balance may contribute to aberrant caspase-1-mediated pathogenesis in Huntington's disease | | Human | NLRP3 | 114548 | NLR family, pyrin domain containing 3 | significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease, Huntington's disease and rheumatoid arthritis | | Human | JPH3 | 57338 | junctophilin 3 | CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in the gene encoding junctophilin-3 in an HD patient who carried an allele with 50 uninterrupted repeats Title:JP-3 gene polymorphism in a healthy population of Serbia and Montenegro|Association:Not Found|Conclusion:Results show that the distribution of JP-3 alleles in population of Serbia and Montenegro is consistent with distributions in other analysed populations. The absence of alleles with more then 18 CTG repeats suggests that HDL-2 is very rare in the populations of Serbia and Montenegro. 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2 Title:Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.|Association:Not Found|Conclusion:Further genetic heterogeneity of the HDL phenotype therefore exists. | | Human | PRPF40A | 55660 | PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) | FBP11 binding mechanism underlies the molecular pathology of severe neurological disorders, e.g., Rett syndrome and Huntington disease | | Human | GHRL | 51738 | ghrelin/obestatin prepropeptide | High circulating ghrelin and low leptin levels in patients with Huntington disease suggest a state of negative energy balance | | Human | GIT1 | 28964 | G protein-coupled receptor kinase interacting ArfGAP 1 | A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington disease | | Human | TARDBP | 23435 | TAR DNA binding protein | In all Huntington disease cases studied, TDP-43 was frequently colocalized with huntingtin in dystrophic neurites and various intracellular inclusions, but not in intranuclear inclusions | | Human | VPS13A | 23230 | vacuolar protein sorting 13 homolog A (S. cerevisiae) | Neurologic findings closely resemble those of Huntington disease (HD, {143100}) | | Human | NLRP1 | 22861 | NLR family, pyrin domain containing 1 | significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease, Huntington's disease and rheumatoid arthritis | | Human | TPPP | 11076 | tubulin polymerization promoting protein | p25 and cyclin-dependent kinase 5 play important roles as mediators of dopamine and glutamate in the neurotoxicity associated with Huntington's disease | | Human | TCERG1 | 10915 | transcription elongation regulator 1 | GRIN2A and TCERG1 may show true association with residual age of onset for Huntington's disease in genetic association tests in 443 affected people from a large set of kindreds from Venezuela | | Human | PPARGC1A | 10891 | peroxisome proliferator-activated receptor gamma, coactivator 1 alpha | These results suggest that PGC-1alpha regulates multiple pathways in neurons and that HDACi's may be good candidates to target PGC-1alpha and GLUT4 in Huntington's Disease and other neurological disorders | | Human | SETDB1 | 9869 | SET domain, bifurcated 1 | modulation of gene silencing mechanisms, through regulation of the ESET gene is important to neuronal survival and, as such, may be a promising treatment in Huntington's disease patients | | Human | GSTO1 | 9446 | glutathione S-transferase omega 1 | Title:Glutathione S-Transferase omega 1 variation does not influence age at onset of Huntington's disease|Association:Not Found|Conclusion:The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD. | | Human | TRIP10 | 9322 | thyroid hormone receptor interactor 10 | CIP4 accumulation and cellular toxicity may have a role in Huntington's disease pathogenesis | | Human | UCHL1 | 7345 | ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) | Title:|Association:Not Found|Conclusion:Not Found functional relevance of S18Y polymorphism of UCHL1 in 946 Caucasian Huntington's disease patients; allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, & the rare Y allele is associated with younger-aged cases Title:Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.|Association:Y|Conclusion:We conclude that the UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD. Mutations of the UCH-L1 gene and alterations of its proteins' activity have been found to associate with several neurodegenerative disorders: Parkinson's, Huntington's and Alzheimer's diseases [review] | | Human | TIMP2 | 7077 | TIMP metallopeptidase inhibitor 2 | TIMP-2 was significantly increased in CSF of Alzheimer's disease and Huntington's disease patients | | Human | TIMP1 | 7076 | TIMP metallopeptidase inhibitor 1 | Levels of TIMP-1 were significantly elevated in cerebrospinal fluid samples from all disease groups: Parkinson's, amyotrophic lateral sclerosis, and Huntington's and Alzheimer's disease | | Human | TGM3 | 7053 | transglutaminase 3 | In HEK 293T cell culture, transglutaminase 3 cross-links the N-terminal fragments of mutant huntingtin protein, therefore it could be involved in the cross-linking of huntingtin into intranuclear inclusions in Huntington disease | | Human | TGM2 | 7052 | transglutaminase 2 | Transglutaminase 2 isoform colocalizes with both huntingtin protein and epsilon-(gamma-glutamyl) lysine covalent cross-links in intranuclear inclusions in Huntington disease In HEK 293T cell culture, transglutaminase 2 cross-links the N-terminal fragments of mutant huntingtin protein, therefore it could be involved in the cross-linking of huntingtin into intranuclear inclusions in Huntington disease | | Human | TGM1 | 7051 | transglutaminase 1 | Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase In HEK 293T cell culture, transglutaminase 1 cross-links the N-terminal fragments of mutant huntingtin protein, therefore it could be involved in the cross-linking of huntingtin into intranuclear inclusions in Huntington disease | | Human | TBP | 6908 | TATA box binding protein | Title:Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.|Association:Not Found|Conclusion:Further genetic heterogeneity of the HDL phenotype therefore exists. Data show that TATA-binding protein labelling was relatively more abundant than huntingtin labelling in the brains of Huntington disease patients, and increased with the grade of the disease genotype-phenotype correlations in white patients with Huntington's disease-like phenotype |
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