Source: ALL

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: 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 35 78 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 18 4 1991 2019
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 33 3 1997 2019
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 13 3 1997 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.600 None 1.000 13 5 2006 2015
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 0.912 114 9 1991 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 97 4 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 64 8 1997 2019
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 29 6 1997 2020
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 26 4 1995 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease 0.500 None 1.000 1 0 2001 2001
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease 0.470 None 1.000 8 5 1999 2015
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 5 2 1996 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.440 strong 1.000 5 2 1998 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 0.927 273 6 1995 2019
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 0.932 118 12 1996 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 0.914 105 5 1995 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.400 None 0.890 100 10 2002 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.400 None 0.890 100 10 2002 2020
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 91 6 1996 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease 0.400 None 0.917 72 8 1999 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease 0.400 None 0.873 55 6 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease 0.400 None 0.923 52 6 2001 2018
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 49 4 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease 0.400 None 0.978 45 2 1999 2019