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Phenotype
Myocardial infarction
274articles
274mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Colorimetric loop-mediated isothermal amplification (cLAMP) assay for the genotyping of a thrombophilia genetic risk factor, MTHFR (C677T).
PMID 40392249 | DOI 10.1039/d5ay00215j · Analytical methods : advancing methods and applications · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | myocardial infarction | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs1801133 | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Colorimetric loop-mediated isothermal amplification (cLAMP) assay for the genotyping of a thrombophilia genetic risk factor, MTHFR (C677T).” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.98 | phenotype_alias_lexicon_v2 |
Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.
PMID 36837870 | PMCID PMC9958922 | DOI 10.3390/metabo13020251 · Metabolites · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | myocardial infarction | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1801133 | “However, the genetic polymorphism of MTHFR C677T (rs1801133) and its association with MI in the presence of diabetes mellitus (DM) as a risk factor still needs to be investigated.” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | phenotype_alias_lexicon_v2 |