Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1837352
Disease: Childhood onset
Childhood onset
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Social and occupational deterioration
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.100 SusceptibilityMutation CLINVAR

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Abnormality of metabolism/homeostasis
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800 Biomarker BEFREE We conclude that thermolabile MTHFR is a variant(s) of MTHFR deficiency which is inherited as an autosomal recessive trait. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800 AlteredExpression BEFREE The biochemical features in these four subjects are distinguishable from subjects homozygous for the thermolabile MTHFR, whose specific activity is approximately 50% of the normal mean, and from heterozygotes for severe MTHFR deficiency, in whom the enzyme is thermostable and has a specific activity of about 50% of the normal mean. 1998340

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Methylenetetrahydrofolate reductase deficiency
0.700 AlteredExpression BEFREE The biochemical features in these four subjects are distinguishable from subjects homozygous for the thermolabile MTHFR, whose specific activity is approximately 50% of the normal mean, and from heterozygotes for severe MTHFR deficiency, in whom the enzyme is thermostable and has a specific activity of about 50% of the normal mean. 1998340

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Methylenetetrahydrofolate reductase deficiency
0.700 Biomarker BEFREE We conclude that thermolabile MTHFR is a variant(s) of MTHFR deficiency which is inherited as an autosomal recessive trait. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.500 Biomarker BEFREE To elucidate the association of thermolabile MTHFR with the development of coronary artery disease, we determined the thermostability of lymphocyte MTHFR in 212 patients with proven coronary artery disease and in 202 controls without clinical evidence of atherosclerotic vascular disease. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 Biomarker BEFREE To elucidate the association of thermolabile MTHFR with the development of coronary artery disease, we determined the thermostability of lymphocyte MTHFR in 212 patients with proven coronary artery disease and in 202 controls without clinical evidence of atherosclerotic vascular disease. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 Biomarker BEFREE To elucidate the association of thermolabile MTHFR with the development of coronary artery disease, we determined the thermostability of lymphocyte MTHFR in 212 patients with proven coronary artery disease and in 202 controls without clinical evidence of atherosclerotic vascular disease. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.100 Biomarker BEFREE To elucidate the association of thermolabile MTHFR with the development of coronary artery disease, we determined the thermostability of lymphocyte MTHFR in 212 patients with proven coronary artery disease and in 202 controls without clinical evidence of atherosclerotic vascular disease. 1998339

1991

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.500 Biomarker BEFREE Thermolabile methylenetetrahydrofolate reductase is a risk factor for coronary artery disease and is unrelated to other risk factors. 8403293

1993

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 Biomarker BEFREE Thermolabile methylenetetrahydrofolate reductase is a risk factor for coronary artery disease and is unrelated to other risk factors. 8403293

1993

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.100 Biomarker BEFREE Thermolabile methylenetetrahydrofolate reductase is a risk factor for coronary artery disease and is unrelated to other risk factors. 8403293

1993

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 AlteredExpression BEFREE The traditional risk factors--age, sex, diabetes, smoking, hypercholesterolemia, and hypertension--were not significantly associated with the presence of thermolabile methylenetetrahydrofolate reductase. 8403293

1993

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
0.010 Biomarker BEFREE Using discriminant function analysis, thermolabile methylenetetrahydrofolate reductase was predictive of angiographically proven coronary artery stenosis. 8403293

1993

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
0.800 Biomarker CLINGEN Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 7920641

1994

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
Methylenetetrahydrofolate reductase deficiency
0.700 Biomarker CLINGEN Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 7920641

1994