Source: LHGDN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease 0.200 None 0.900 11 0 1991 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease 0.500 None 0.912 4 0 1991 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease 0.100 None 0.929 2 0 1991 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.100 None 0.881 9 0 1993 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease 0.400 None 0.927 24 0 1995 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group 0.400 None 0.914 8 0 1995 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease 0.500 None 0.962 2 0 1995 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group 0.400 None 0.923 8 0 1996 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease 0.100 None 0.947 3 0 1996 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0002902
Disease: Anencephaly
Anencephaly
disease 0.440 None 1.000 1 0 1996 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group 0.500 None 0.938 12 0 1997 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.500 None 0.859 11 0 1997 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease 0.100 None 0.714 1 0 1997 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype 0.100 None 0.838 1 0 1997 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease 0.390 None 1.000 4 0 1998 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.100 None 1.000 2 0 1998 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.100 None 0.979 1 0 1998 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis
disease 0.030 None 1.000 1 0 1998 2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.050 None 1.000 1 0 1998 2011
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 0.878 10 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease 0.400 None 0.978 7 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0001430
Disease: Adenoma
Adenoma
group 0.100 None 0.846 6 0 1999 2013
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease 0.100 None 0.967 5 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0.917 2 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease 0.400 None 0.868 1 0 1999 2018