Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
1 records shown · first 60Mammalian 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 | rs1788799 | “No selection signature was detected in present-day human populations, but analysis of nonsynonymous polymorphisms showed that a variant (Ile642Met, rs1788799) in the sterol sensing domain affects a highly conserved position.” | 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 |