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
10 records shown · first 60Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).
PMID 39837367 | DOI 10.1016/j.gene.2025.149259 · Gene · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.93 | phenotype_alias_lexicon_v2 |
Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.
PMID 39242607 | PMCID PMC11379967 | DOI 10.1038/s41598-024-70381-y · Scientific reports · 2024 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “This study aimed to assess the association of single nucleotide polymorphisms (SNPs) in the fatty acid binding protein-2 (rs1799883), Cytochrome P450 2E1 (rs3813865), TP53 (rs1042522), and Murine double minute 2 (rs1042522) genes with CRC.” | 0.90 | hgvs_regex_v1 |
| gene | FABP2 | “Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.” | 0.98 | hgnc_dict_v1 |
| gene | CYP2E1 | “Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility.” | 0.98 | hgnc_dict_v1 |
Host genetics impact on SARS-CoV-2 vaccine-induced immunoglobulin levels and dynamics: The role of TP53, ABO, APOE, ACE2, HLA-A, and CRP genes.
PMID 36531241 | PMCID PMC9748098 | DOI 10.3389/fgene.2022.1028081 · Frontiers in genetics · 2022 · 26 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “In addition to age (p < 0.01), sex (p = 0.03), and type of vaccine (p < 0.0001), which partially accounted for the remarkable individual differences observed in the antibody levels and dynamics, interesting genetic determinants appeared as significant modifiers of both IgG and NAb responses among the selected genes investigated (TP53, rs1042522; APOE, rs7412/rs429358; ABO, rs657152; ACE2, rs2285666; HLA-A rs2571381/rs2499; CRP, rs2808635/rs876538; LZTFL1, rs35044562; OAS3, rs10735079; SLC6A20, rs11385942; CFH, rs1061170; and ACE1, ins/del, rs4646994).” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “Host genetics impact on SARS-CoV-2 vaccine-induced immunoglobulin levels and dynamics: The role of TP53, ABO, APOE, ACE2, HLA-A, and CRP genes.” | 0.98 | hgnc_dict_v1 |
| gene | ABO | “Host genetics impact on SARS-CoV-2 vaccine-induced immunoglobulin levels and dynamics: The role of TP53, ABO, APOE, ACE2, HLA-A, and CRP genes.” | 0.98 | hgnc_dict_v1 |
| gene | APOE | “Host genetics impact on SARS-CoV-2 vaccine-induced immunoglobulin levels and dynamics: The role of TP53, ABO, APOE, ACE2, HLA-A, and CRP genes.” | 0.98 | hgnc_dict_v1 |
Risk of Colorectal Carcinoma May Predispose to the Genetic Variants of the GST, CYP450, and TP53 Genes Among Nonsmokers in the Saudi Community.
PMID 33883929 | PMCID PMC8055278 | DOI 10.2147/IJGM.S294802 · International journal of general medicine · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “We explored whether allelic variants of the GSTM1, GSTT1, CYP450 (rs4646903 and rs1048943), and TP53 (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC.” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “Risk of Colorectal Carcinoma May Predispose to the Genetic Variants of the GST, CYP450, and TP53 Genes Among Nonsmokers in the Saudi Community.” | 0.98 | hgnc_dict_v1 |
| gene | GSTM1 | “We explored whether allelic variants of the GSTM1, GSTT1, CYP450 (rs4646903 and rs1048943), and TP53 (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC.” | 0.98 | hgnc_dict_v1 |
| gene | GSTT1 | “We explored whether allelic variants of the GSTM1, GSTT1, CYP450 (rs4646903 and rs1048943), and TP53 (rs1042522) genes predisposed nonsmoking Saudi individuals to increased risk for CRC.” | 0.98 | hgnc_dict_v1 |
Association between tobacco substance usage and a missense mutation in the tumor suppressor gene P53 in the Saudi Arabian population.
PMID 33481818 | PMCID PMC7822264 | DOI 10.1371/journal.pone.0245133 · PloS one · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “P53 rs1042522 (C/G), P21 rs1801270 (A/C), and MDM2 rs769412 (A/G) were investigated by genotyping 568 blood specimens: 283 from male/female smokers and 285 from male/female non-smokers.” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “The tumor suppressor gene TP53 and its downstream genes P21 and MDM2 play crucial roles in combating DNA damage at the G1/S cell cycle checkpoint.” | 0.98 | hgnc_dict_v1 |
| gene | MDM2 | “The tumor suppressor gene TP53 and its downstream genes P21 and MDM2 play crucial roles in combating DNA damage at the G1/S cell cycle checkpoint.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association between tobacco substance usage and a missense mutation in the tumor suppressor gene P53 in the Saudi Arabian population. This study was conducted to examine a potential association between tobacco substance usage (TSU) and single-nucleotide polymorphism (SNP) at the exon regions of the P53, P21, and MDM2 genes by comparing populations of smokers and non-smokers from Saudi Arabia. Heterozygous CG, homozygous GG, and CG+GG genotypes, as well as the G allele of rs1042522 were significantly associated with TSU in Saudi smokers compared with non-smokers. The selected SNP of P53 was strongly associated with TSU and may be linked to TSU-induced diseases in the Saudi Arabian population.” | 0.95 | saudi_context_rules_v1 |
Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.
PMID 32001373 | DOI 10.1016/j.gene.2020.144391 · Gene · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.” | 0.98 | hgnc_dict_v1 |
| gene | MDM2 | “Genetic polymorphisms of TP53 (rs1042522) and MDM2 (rs2279744) and colorectal cancer risk: An updated meta-analysis based on 59 case-control studies.” | 0.98 | hgnc_dict_v1 |
| gene | TG | “Moreover, an evidence of MDM2 (rs2279744) association with increased CRC risk in overall pooled subjects under dominant and heterozygote models [(TG + GG vs.” | 0.98 | hgnc_dict_v1 |
Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
PMID 31528229 | PMCID PMC6746117 | DOI 10.7150/jca.33857 · Journal of Cancer · 2019 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “Additionally, the rs2250889 SNV of the MMP9 gene was significantly associated with HER2 status, whereas the TP53 SNVs rs12951053 and rs1042522 were associated with age at menarche (p-value = 0.043) and breastfeeding status (p-value = 0.013), respectively.” | 0.90 | hgvs_regex_v1 |
| gene | BRCA1 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
| gene | DAPK1 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
The genetic association study of TP53 polymorphisms in Saudi obese patients.
PMID 31762593 | PMCID PMC6864141 | DOI 10.1016/j.sjbs.2019.04.006 · Saudi journal of biological sciences · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “We have selected three p53 polymorphisms, rs1642785 (C > G), and rs9894946 (A > G), and rs1042522 (Pro72Arg; C > G) and assessed their association with obesity risk in the Saudi population.” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “The genetic association study of TP53 polymorphisms in Saudi obese patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Obesity is a multifactorial metabolic disorder characterized by low grade chronic inflammation.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Recent genome-wide association studies reported that tumor suppressor gene p53 variants play a critical role in the predisposition of type 2 diabetes and obesity.” | 0.93 | phenotype_alias_lexicon_v2 |
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
PMID 30796655 | PMCID PMC6533225 | DOI 10.1007/s10549-019-05168-1 · Breast cancer research and treatment · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)].” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.817C>T | “The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)].” | 0.95 | hgvs_regex_v1 |
Combined Genetic Biomarkers Confer Susceptibility to Risk of Urothelial Bladder Carcinoma in a Saudi Population.
PMID 28348449 | PMCID PMC5350417 | DOI 10.1155/2017/1474560 · Disease markers · 2017 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1042522 | “Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.” | 0.90 | hgvs_regex_v1 |
| gene | UBC | “We evaluated the associations between seven single nucleotide polymorphisms and susceptibility to urothelial bladder carcinoma (UBC) in a Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | GSTT1 | “Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.” | 0.98 | hgnc_dict_v1 |
| gene | GSTM1 | “Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.” | 0.98 | hgnc_dict_v1 |