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Phenotype
Endometrial cancer
49articles
49mentions
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
1 records shown · first 60Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.
PMID 25378557 | PMCID PMC4321445 | DOI 10.1093/hmg/ddu552 · Human molecular genetics · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | endometrial cancer | “Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs8064454 | “Reporter assays demonstrated that this extended region reduces activity in combination with the minimal HNF1B promoter, and that the minor alleles of rs11263763 or rs8064454 are associated with decreased HNF1B promoter activity.” | 0.90 | hgvs_regex_v1 |
| gene | HNF1B | “Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers.” | 0.93 | phenotype_alias_lexicon_v2 |