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2 records shown · first 60Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.
PMID 30458724 | PMCID PMC6247512 | DOI 10.1186/s12881-018-0715-5 · BMC medical genetics · 2018 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1805081 | “METHODS: The genotypes of rs1800592, rs10011540 and rs3811791 (UCP1 gene) and rs1805081 and rs1805082 (NPC1 gene) were determined in a total of 492 subjects using TaqMan chemistry by Real-time PCR.” | 0.90 | hgvs_regex_v1 |
| gene | UCP1 | “Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.” | 0.98 | hgnc_dict_v1 |
| gene | NPC1 | “The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.” | 0.98 | phenotype_alias_lexicon_v2 |
Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.
PMID 23153210 | PMCID PMC3520752 | DOI 10.1186/1741-7015-10-140 · BMC medicine · 2012 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1805081 | “Notably, two NPC1 haplotypes were also associated with T2D in men (rs1805081-rs1788799, His-Met: P = 0.0012, OR = 1.54; His-Ile: P = 0.0004, OR = 0.63).” | 0.90 | hgvs_regex_v1 |
| gene | NPC1 | “Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “A polymorphism (His215Arg) in NPC1 was associated with obesity in Europeans.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |