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
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
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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease 0.600 None 1.000 6 0 2006 2015
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: 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: 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: 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: 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: 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: 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
Neural tube defect, folate-sensitive
disease 0.500 None 1.000 0 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 1 1 1999 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 1 0 1998 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: 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.400 None 1.000 8 0 2002 2014
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: 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: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 0.878 4 0 1999 2019
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 2 0 2002 2020
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease 0.400 None 0.951 2 0 2001 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group 0.400 None 1.000 2 0 2002 2015
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 2 0 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 2 0 1996 2020