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
2 records shown · first 60Aldosterone synthase gene is not a major susceptibility gene for progression of chronic kidney disease in patients with autosomal dominant polycystic kidney disease.
PMID 28540892 | DOI 10.4103/1319-2442.206464 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2017 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs4544 | “The three tag-SNPs within CYP11B2 gene (rs3802230, rs4543, and rs4544) were genotyped using FRET-based KASPar method.” | 0.90 | hgvs_regex_v1 |
| gene | CYP11B2 | “The present study is aimed to investigate the potential modifier effect of CYP11B2 gene on the progression of CKD in ADPKD.” | 0.98 | hgnc_dict_v1 |
| phenotype | polycystic kidney disease | “Aldosterone synthase gene is not a major susceptibility gene for progression of chronic kidney disease in patients with autosomal dominant polycystic kidney disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Hypertension is a frequent cause of chronic kidney disease (CKD) and mortality in patients with ADPKD.” | 0.98 | phenotype_alias_lexicon_v2 |
Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.
PMID 26166093 | PMCID PMC4504634 | DOI 10.1097/MD.0000000000001091 · Medicine · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs45445694 | “None of the TYMS polymorphisms is statistically associated with allelic imbalance.The results acquired allow us to deny the previously established assertion of an influence of 2 to 4 fold of the rs45445694 and rs2853542 polymorphisms in the expression of TYMS and narrow its allelic imbalance to 1.5 fold, in our population.” | 0.90 | hgvs_regex_v1 |
| gene | TYMS | “Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | gastric cancer | “These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | leukemia | “These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target.” | 0.98 | phenotype_alias_lexicon_v2 |