Source: CURATED

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: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		phenotype 0.300 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		disease 0.800 definitive 1.000 16 75 1991 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		disease 0.700 definitive 1.000 7 0 1991 2019
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 1 1 1991 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		disease 0.300 definitive 1.000 7 0 1994 2017
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 11 0 1995 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group 0.400 None 0.977 1 0 1995 2016
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 1 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 1 0 1995 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.400 None 0.932 8 0 1996 2019
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 2 0 1996 2020
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: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease 0.600 None 1.000 6 0 1997 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.600 None 1.000 6 0 1997 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease 0.400 None 1.000 5 0 1997 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease 0.400 None 1.000 5 0 1997 2019
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 3 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 3 1 1997 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.340 None 1.000 2 0 1997 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease 0.330 None 0.667 1 0 1997 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease 0.370 None 0.875 1 0 1997 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group 0.310 None 1.000 1 0 1997 2011
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease 0.500 None 0.931 1 0 1997 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group 0.330 None 1.000 4 0 1998 2014
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 1 0 1998 2019