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
5 records shown · first 60Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.
PMID 32257207 | PMCID PMC7087481 | DOI 10.3892/mco.2020.2003 · Molecular and clinical oncology · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2853669 | “Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.” | 0.90 | hgvs_regex_v1 |
| gene | TERT | “Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women.” | 0.98 | hgnc_dict_v1 |
| variant | T349C | “A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population.” | 0.82 | literature_variant_regex_v2 |
| variant | C228T | “No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study.” | 0.82 | literature_variant_regex_v2 |
High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population.
PMID 28115978 | PMCID PMC5247808 | DOI 10.1186/s12986-016-0155-1 · Nutrition & metabolism · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs285 | “The SNPs (rs1121923, rs328, rs4922115 and rs285) were genotyped by polymerase chain reaction followed by restriction enzyme digestion and 20% of samples were sequenced to validate the genotypes obtained.” | 0.90 | hgvs_regex_v1 |
| gene | LPL | “BACKGROUND: Single nucleotide polymorphisms (SNPs) in lipoprotein lipase gene (LPL) have been shown to influence metabolism related to lipid phenotypes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “METHODS: The analysis was performed in 788 Type 2 diabetes cases and 1,057 controls randomly chosen from the cross-sectional Chennai Urban Rural Epidemiological Study.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs1121923 | “The SNPs (rs1121923, rs328, rs4922115 and rs285) were genotyped by polymerase chain reaction followed by restriction enzyme digestion and 20% of samples were sequenced to validate the genotypes obtained.” | 0.90 | hgvs_regex_v1 |
Association between HLA-DQ Gene Polymorphisms and HBV-Related Hepatocellular Carcinoma.
PMID 28761441 | PMCID PMC5518512 | DOI 10.1155/2017/7150386 · Gastroenterology research and practice · 2017 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2856718 | “Previous studies have investigated the HLA-DQ (rs2856718 and rs9275572) polymorphisms that may be associated with the development of HBV-related HCC.” | 0.90 | hgvs_regex_v1 |
| phenotype | hepatocellular carcinoma | “Association between HLA-DQ Gene Polymorphisms and HBV-Related Hepatocellular Carcinoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hepatitis B | “Host gene variants may influence hepatitis B virus- (HBV-) related HCC.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We found that rs2856718 and rs9275572 in HLA-DQ significantly decreased HBV-related HCC in total population, especially in Chinese, but not in Saudi Arabian.” | 0.95 | saudi_context_rules_v1 |
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 | rs2853542 | “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 |
Association between HLA variations and chronic hepatitis B virus infection in Saudi Arabian patients.
PMID 24465366 | PMCID PMC3898905 | DOI 10.1371/journal.pone.0080445 · PloS one · 2014 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2856718 | “Three single nucleotide polymorphisms (SNPs) belonged to HLA-DQ region (rs2856718, rs7453920 and rs9275572) and two SNPs belonged to HLA-DP (rs3077 and rs9277535) were studied.” | 0.90 | hgvs_regex_v1 |
| phenotype | hepatitis B | “Association between HLA variations and chronic hepatitis B virus infection in Saudi Arabian patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hepatocellular carcinoma | “Hepatitis B virus (HBV) infection is a leading cause of liver diseases including cirrhosis and hepatocellular carcinoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association between HLA variations and chronic hepatitis B virus infection in Saudi Arabian patients. The aim of this study was to investigate the role of HLA genetic polymorphisms and their possible role in HBV infection in Saudi Arabian patients. Variations in HLA genes were screened in 1672 subjects who were divided according to their clinical status into six categories as follows; clearance group, inactive carriers, active carriers, cirrhosis, hepatocellular carcinoma (HCC) patients and uninfected healthy controls. In conclusion, these results suggest that variations in HLA genes could affect susceptibility to and clearance of HBV infection in Saudi Arabian patients.” | 0.95 | saudi_context_rules_v1 |