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4 records shown · first 60Genetic Variations in BCL3, MDM4, KLF14, and miR-146a and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients.
PMID 41378237 | PMCID PMC12688369 | DOI 10.1159/000545352 · Molecular syndromology · 2025 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2910164 | “Immunometabolism genes, including BCL3 (rs2927488 G>A), MDM4 (rs11801299 G>A), KLF14 (rs972283 G>A), and miR-146a (rs2910164 C>G), were identified via tetra amplification-refractory mutation system PCR.” | 0.90 | hgvs_regex_v1 |
| gene | BCL3 | “Genetic Variations in BCL3, MDM4, KLF14, and miR-146a and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
| gene | MDM4 | “Genetic Variations in BCL3, MDM4, KLF14, and miR-146a and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
| gene | KLF14 | “Genetic Variations in BCL3, MDM4, KLF14, and miR-146a and Their Associations with the Predisposition and Progression of Myeloproliferative Disorder and Chronic Myeloid Leukemia Patients.” | 0.98 | hgnc_dict_v1 |
Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients.
PMID 37623520 | PMCID PMC10455578 | DOI 10.3390/jpm13081270 · Journal of personalized medicine · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2910164 | “METHODOLOGY: We evaluated the association of SNVs of miR-27a rs895819 A>G, 146a-rs2910164 C>G, and HNF-1 alpha rs1169288 G>T (I27L) with the risk of T2D in Saudi patients with the Amplification Refractory Mutation System PCR (ARMS-PCR).” | 0.90 | hgvs_regex_v1 |
| phenotype | diabetes mellitus | “Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients. The objective of the present study was to examine the associations between MiR-27a, MiR-146, and HNF-1 alpha single-nucleotide variations (SNVs) with T2D risk in the Saudi population. METHODOLOGY: We evaluated the association of SNVs of miR-27a rs895819 A>G, 146a-rs2910164 C>G, and HNF-1 alpha rs1169288 G>T (I27L) with the risk of T2D in Saudi patients with the Amplification Refractory Mutation System PCR (ARMS-PCR). To our knowledge, this is the first study to highlight the association between miR-27a, miR-146, and HNF-1 alpha SNVs and the risk of T2D in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs895819 | “METHODOLOGY: We evaluated the association of SNVs of miR-27a rs895819 A>G, 146a-rs2910164 C>G, and HNF-1 alpha rs1169288 G>T (I27L) with the risk of T2D in Saudi patients with the Amplification Refractory Mutation System PCR (ARMS-PCR).” | 0.90 | hgvs_regex_v1 |
Prospective Functions of miRNA Variants May Predict Breast Cancer Among Saudi Females.
PMID 37899898 | PMCID PMC10611986 | DOI 10.7759/cureus.47849 · Cureus · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2910164 | “Methods One hundred fifty-four females, including 76 females diagnosed with BC and 78 healthy controls, were analyzed using TaqMan™ (Thermo Fischer Scientific, Waltham, MA) genotyping assays for the miR-196a2 rs11614913 C>T, miR-146a rs2910164 C>G, and miR-499 rs3746444 A>G.” | 0.90 | hgvs_regex_v1 |
| phenotype | breast cancer | “Prospective Functions of miRNA Variants May Predict Breast Cancer Among Saudi Females.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Prospective Functions of miRNA Variants May Predict Breast Cancer Among Saudi Females. BC is a significant public health in females worldwide, where it remains the leading cause of death among Saudi females. Here, we evaluate the susceptibility of the miRNA genetic variants to the risk of BC in Saudi females. Methods One hundred fifty-four females, including 76 females diagnosed with BC and 78 healthy controls, were analyzed using TaqMan™ (Thermo Fischer Scientific, Waltham, MA) genotyping assays for the miR-196a2 rs11614913 C>T, miR-146a rs2910164 C>G, and miR-499 rs3746444 A>G.” | 0.95 | saudi_context_rules_v1 |
| variant | rs11614913 | “Methods One hundred fifty-four females, including 76 females diagnosed with BC and 78 healthy controls, were analyzed using TaqMan™ (Thermo Fischer Scientific, Waltham, MA) genotyping assays for the miR-196a2 rs11614913 C>T, miR-146a rs2910164 C>G, and miR-499 rs3746444 A>G.” | 0.90 | hgvs_regex_v1 |
Association of single nucleotide polymorphisms in microRNAs with susceptibility to hepatitis B virus infection and HBV-related liver complications: A study in a Saudi Arabian population.
PMID 28685993 | DOI 10.1111/jvh.12749 · Journal of viral hepatitis · 2017 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2910164 | “In addition, we found that rs2292832 and rs11614913 were associated with risk of HBV infection, viral clearance and cirrhosis+HCC, whereas rs2910164 was associated with proneness to HBV infection, and ability to clear the virus.” | 0.90 | hgvs_regex_v1 |
| phenotype | hepatitis B | “Association of single nucleotide polymorphisms in microRNAs with susceptibility to hepatitis B virus infection and HBV-related liver complications: A study in a Saudi Arabian population.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hepatocellular carcinoma | “The aim of this study was to evaluate the association of 10 SNPs in different microRNAs (miRNAs) with susceptibility to hepatitis B virus (HBV) infection, HBV clearance, persistence of chronic HBV infection, and progression to liver cirrhosis and hepatocellular carcinoma (HCC).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of single nucleotide polymorphisms in microRNAs with susceptibility to hepatitis B virus infection and HBV-related liver complications: A study in a Saudi Arabian population. SNPs in miRNAs affect the susceptibility, clearance and progression of HBV infection in Saudi Arabian patients.” | 0.95 | saudi_context_rules_v1 |