Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.260 | AlteredExpression | disease | BEFREE | Caralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model. | 30353709 | 2018 | ||||
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0.260 | Biomarker | disease | BEFREE | Finally, the deregulation of 5HT2C splicing isoforms in PWS could contribute to the known hormonal imbalances. | 29969651 | 2018 | ||||
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0.260 | Biomarker | disease | BEFREE | It examines the growing evidence that altered levels of these SNORDs and/or their host-gene transcripts may be a primary cause of Prader-Willi syndrome (PWS; a rare disorder characterized by overeating and obesity) as well as abnormalities in signaling through the 5-HT2C serotonin receptor. | 28296064 | 2017 | ||||
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0.260 | AlteredExpression | disease | BEFREE | The data indicate that the transcriptional unit expressing HTR2C is more complex than previously recognized and likely deregulated in Prader-Willi syndrome. | 23494383 | 2013 | ||||
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0.260 | Biomarker | disease | BEFREE | The imprinted Snurf-Snrpn chromosomal domain contains two large arrays of tandemly repeated, paternally expressed box C/D small-nucleolar RNA (snoRNA) genes: the SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters believed to play key roles in the fine-tuning of serotonin receptor (5-HT2C) pre-mRNA processing and in the etiology of the Prader-Willi Syndrome (PWS), respectively. | 22495932 | 2012 | ||||
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0.260 | Biomarker | disease | MGD | Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome. | 20394819 | 2010 | ||||
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0.260 | Biomarker | disease | BEFREE | These data illustrate, for the first time, the physiological consequences of altered RNA editing of 5htr2c linked to mbii-52 loss that may underlie specific aspects of the complex PWS phenotype and point to an important functional role for this imprinted snoRNA. | 19304781 | 2009 |