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Genes (19)
Species: human : 19 | |
Human | SNORD115-1 | 338433 | | results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome Since the complete loss of the HBII-52 genes in family members who carry the deletion on their paternal chromosome is not associated with an obvious clinical phenotype, we conclude that HBII-52 snoRNA genes do not play a major role in PWS | Human | NIPA1 | 123606 | non imprinted in Prader-Willi/Angelman syndrome 1 | quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales Caused by mutation in the nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region-1 (NIPA1, {608145.0001}) located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes | Human | TUBGCP5 | 114791 | tubulin, gamma complex associated protein 5 | located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales | Human | NIPA2 | 81614 | non imprinted in Prader-Willi/Angelman syndrome 2 | located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales | Human | GHRL | 51738 | ghrelin/obestatin prepropeptide | There may be a suppressive (or up-regulating) controlling mechanism of ghrelin secretion in obese (or lean) Prader-Willi syndrome children Hyperghrelinemia in Prader-Willi syndrome and pituitary stalk interruption not related to growth hormone secretion Elevated plasma levels in Prader Willi syndrome This suggests that even though insulin sensitivity to ghrelin is well maintained, an increase in the baseline ghrelin levels is characteristic of PWS Gastric emptying in Willie Prader syndrome (WPS) is reduced despite higher ghrelin levels, and that the voracious appetite associated with PWS is related to another mechanism IGF-I or GH/IGF axis deficiency appears to be unrelated to observed ghrelin-expressing cells increases in the stomach of patients with Prader-Willi syndrome ghrelin levels in children with Prader-Willi syndrome are significantly elevated compared with BMI-matched obese controls; elevated levels may play a role as an orexigenic factor driving the insatiable appetite and obesity found in PWS The hyperghrelinemia in prader-willi syndrome adults is therefore not solely explained by their reduced visceral adiposity and relative hypoinsulinemia | Human | CYFIP1 | 23191 | cytoplasmic FMR1 interacting protein 1 | quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes | Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | In adults with Prader-Willi syndrome serum total adiponectin levels were higher than in controls with simple obesity | Human | VEGFA | 7422 | vascular endothelial growth factor A | Vascular endothelial growth factor expression is significantly increased in port-wine stains, suggesting that VEGF could contribute to the pathogenesis of PWS by inducing vessel proliferation, vasodilation, or both | Human | TSPY1 | 7258 | testis specific protein, Y-linked 1 | A daughter who carried the der Y had the clinical features of Prader-Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism | Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | a possibly inactivating mutation in the SNRPN minimal promoter region was identified in Prader-Willi syndrome | Human | SIM1 | 6492 | single-minded homolog 1 (Drosophila) | Haploinsufficiency of the SIM1 gene might be responsible for the severe obesity observed in a child with a Prader-Willi-like phenotype | Human | OCA2 | 4948 | oculocutaneous albinism II | Title:The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.|Association:Not Found|Conclusion:Not Found | Human | NDN | 4692 | necdin, melanoma antigen (MAGE) family member | Lack of Necdin expression induces perinatal serotonergic alterations that affect the maturation and function of the respiratory network, inducing breathing deficits in mice and probably in Prader-Willi patients | Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | MeCP2 deficiency causes epigenetic aberrations at the PWS imprinting center | Human | LEPR | 3953 | leptin receptor | leptin serum levels & soluble leptin receptors levels were studied in Prader-Willi & Down syndromes; data suggest that whereas PWS patients have a leptin assessment corresponding to degree of obesity, DS subjects may have a defect in secretion of leptin | Human | LEP | 3952 | leptin | leptin serum levels & soluble leptin receptors levels were studied in Prader-Willi & Down syndromes; data suggest that whereas PWS patients have a leptin assessment corresponding to degree of obesity, DS subjects may have a defect in secretion of leptin | Human | KDR | 3791 | kinase insert domain receptor (a type III receptor tyrosine kinase) | VEGF-R2 expression is significantly increased in port-wine stains, suggesting that VEGF-R2 could contribute to the pathogenesis of PWS by inducing vessel proliferation, vasodilation, or both | Human | HCRT | 3060 | hypocretin (orexin) neuropeptide precursor | Decrease in the number of hypocretin neurons does not play a major role in the occurrence of narcolepsy-like symptoms in Prader-Willi syndrome | Human | ACADS | 35 | acyl-CoA dehydrogenase, C-2 to C-3 short chain | Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype |
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