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4 records shown · first 60Dysregulated Vitamin D, CYP2R1, TCF7L2, and CCR5 Δ32 Gene Variations are Associated with Coronary Artery Disease.
PMID 39600283 | DOI 10.24976/Discov.Med.202436190.210 · Discovery medicine · 2024 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs333 | “CONCLUSION: The CYP2R1 rs1562902 C > T, CCR5 Δ32 (rs333), and TCF7L2 rs12255372 G > T polymorphisms are potential genetic loci associated with increased CAD risk.” | 0.90 | hgvs_regex_v1 |
| gene | CYP2R1 | “Dysregulated Vitamin D, CYP2R1, TCF7L2, and CCR5 Δ32 Gene Variations are Associated with Coronary Artery Disease.” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “Dysregulated Vitamin D, CYP2R1, TCF7L2, and CCR5 Δ32 Gene Variations are Associated with Coronary Artery Disease.” | 0.98 | hgnc_dict_v1 |
| gene | CCR5 | “Dysregulated Vitamin D, CYP2R1, TCF7L2, and CCR5 Δ32 Gene Variations are Associated with Coronary Artery Disease.” | 0.98 | hgnc_dict_v1 |
Exploring the Association of Biochemical Characterization and Genetic Determinants of TNF-α, CXCR2, and CCR5 Delta 32 Mutation with Predisposition to Polycystic Ovary Syndrome.
PMID 39202691 | PMCID PMC11355235 | DOI 10.3390/life14080949 · Life (Basel, Switzerland) · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs333 | “CONCLUSIONS: Our study concludes that TNF-α rs1800629G>A, CXCR2-rs2230054C>T, and CCR5-Delta32 rs333 are potential loci for developing PCOS in the Tabuk population.” | 0.90 | hgvs_regex_v1 |
| gene | CXCR2 | “Exploring the Association of Biochemical Characterization and Genetic Determinants of TNF-α, CXCR2, and CCR5 Delta 32 Mutation with Predisposition to Polycystic Ovary Syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | CCR5 | “Exploring the Association of Biochemical Characterization and Genetic Determinants of TNF-α, CXCR2, and CCR5 Delta 32 Mutation with Predisposition to Polycystic Ovary Syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | infertility | “It is a globally rising infertility disorder that affects a large percentage of women of reproductive age, with a relatively high prevalence of 8-13%.” | 0.98 | phenotype_alias_lexicon_v2 |
Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.
PMID 31030250 | DOI 10.1007/s00277-019-03697-9 · Annals of hematology · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs333 | “We aimed to estimate the prevalence of the HMOX1-413 A>T (rs2071746) and CCR5Δ32 (rs333) polymorphisms, and to assess their effect on SCD phenotype and HbF level among Egyptian patients.” | 0.90 | hgvs_regex_v1 |
| gene | HMOX1 | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | hgnc_dict_v1 |
| gene | CCR5 | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell anemia | “Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.
PMID 28279756 | DOI 10.1016/j.humimm.2017.03.003 · Human immunology · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | Rs333 | “Three mutations are predicted to influence CCR5 function, including the 32bp deletion (Rs333).” | 0.90 | hgvs_regex_v1 |
| gene | CCR5 | “Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “AIMS: To investigate the extent of CCR5 polymorphism in the healthy Saudi population. METHOD: A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. CONCLUSIONS: This is the first report on sequencing the full CCR5 gene using NGS in the Saudi population.” | 0.95 | saudi_context_rules_v1 |