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
About your search
MTHFR and diabetes mellitus are reported together in 7 articles.
Gene
MTHFR
- HGNC
- HGNC:7436
81articles
81mentions
7variants with confirmed gene link
Most co-reported phenotypes (articles)
stroke 9breast cancer 7diabetes mellitus 7coronary artery disease 6hypertension 6obesity 6epilepsy 5autism spectrum disorder 4
Reported variants (articles · ClinVar status)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
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
7 records shown · first 60Biochemical 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 |
|---|---|---|---|---|
| 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 |
| 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 |
Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.
PMID 36431040 | PMCID PMC9697170 | DOI 10.3390/life12111905 · Life (Basel, Switzerland) · 2022 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “CAD is caused by genetic and other factors including hypertension, hyperlipidemia, obesity, stress, unhealthy diet, physical inactively, smoking and Type 2 diabetes (T2D).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KLF14 | “Conclusion: The MTHFR 677C>T, KLF14 rs972283 G>A, miRNAs27a A>G, and eNOS3 rs1799983 G>T genotypes were associated with CAD susceptibility (p < 0.05).” | 0.98 | hgnc_dict_v1 |
| phenotype | coronary artery disease | “Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.
PMID 35673506 | PMCID PMC9167251 | DOI 10.1007/s40200-022-01001-7 · Journal of diabetes and metabolic disorders · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs1801133 | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.90 | hgvs_regex_v1 |
| variant | C677T | “OBJECTIVE: Type 2 Diabetes is a glucose metabolic disorder occurred by insulin insensitivity in which folate metabolism plays an important role. it is believed that polymorphism of Methylenetetrahydrofolate reductase (MTHFR) C677T linked with type 2 diabetes mellitus.” | 0.82 | literature_variant_regex_v2 |
Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.
PMID 26000264 | PMCID PMC4419678 | DOI 10.3389/fped.2015.00034 · Frontiers in pediatrics · 2015 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | C677T | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.82 | literature_variant_regex_v2 |
| variant | G1691A | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.82 | literature_variant_regex_v2 |
ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.
PMID 23458876 | DOI 10.1016/j.gene.2013.02.017 · Gene · 2013 · 20 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ACE | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “It was found that TCF7L2 rs7903146 was significantly associated with a pooled OR of 1.155 (95%C.I.=1.059-1.259), p<0.0001 and I(2)=78.30% among the Arab population, whereas among Caucasians, the pooled OR was 1.45 (95%C.I.=1.386-1.516), p<0.0001 and I(2)=77.20%.” | 0.98 | hgnc_dict_v1 |
Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.
PMID 23267299 | PMCID PMC3523778 | DOI 10.12816/0005968 · International journal of health sciences · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “The same was observed among cases-subgroups of hypertension associated with both diabetes and obesity and among cases of hypertension with obesity, also with higher odds ratio (OR=2.6 and 2.2 respectively).” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “The same was observed among cases-subgroups of hypertension associated with obesity with a notably higher odds ratio (OR=2.6, 95% CI=1.3-5.01, p=0.004).” | 0.98 | phenotype_alias_lexicon_v2 |
Thrombophilia in young patients with acute myocardial infarction.
PMID 18176672 · Saudi medical journal · 2008 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “Traditional risk factors of CAD and protein C, S, antithrombin III deficiencies, factor V Leiden (FV Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “RESULTS: There were statistically significant differences in terms of obesity, smoking, triglyceride, total cholesterol, high-density lipoprotein, high-density lipoprotein, and very-low-density lipoprotein cholesterol, family history, hypertension, diabetes, and left ventricular hypertrophy between patients and controls.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | myocardial infarction | “Thrombophilia in young patients with acute myocardial infarction.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | coronary artery disease | “OBJECTIVE: To investigate the association of thrombophilia and coronary artery disease (CAD) in patients with myocardial infarction (MI).” | 0.98 | phenotype_alias_lexicon_v2 |