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NPC1 and diabetes mellitus are reported together in 2 articles.
Gene
NPC1
- HGNC
- HGNC:7897
7articles
7mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
Niemann-Pick disease 6diabetes mellitus 2lysosomal storage disease 2obesity 2Crohn disease 1inflammatory bowel disease 1
Reported variants (articles · ClinVar status)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
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 |
|---|---|---|---|---|
| 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 | diabetes mellitus | “RESULTS: A significant association of UCP1 polymorphisms rs1800592 [OR, 1.52 (1.10-2.08); p = 0.009] was observed in the obese cohort after adjusting with age, sex and type 2 diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | UCP1 | “Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.” | 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 |
|---|---|---|---|---|
| gene | NPC1 | “Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “A polymorphism (His215Arg) in NPC1 was associated with obesity in Europeans.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: We performed phylogenetic analysis, population genetic tests, and genotype-phenotype analysis in a population from Saudi Arabia. This variant and the previously described His215Arg polymorphism were tested for association with obesity and type 2 diabetes (T2D) in a cohort from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |