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: 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: 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: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		group 0.300 None 1.000 11 0 2005 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		group 0.300 None 1.000 11 0 2005 2016
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: 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: 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: 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: 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: 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: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease 0.360 None 1.000 5 0 2001 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication 		disease 0.300 None 1.000 5 0 2008 2014
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: 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: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		disease 0.300 None 1.000 4 0 2005 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0751081
Disease: Trisomy 21, Mitotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction 		disease 0.300 None 1.000 4 0 2005 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0432417
Disease: Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Meiotic Nondisjunction 		disease 0.300 None 1.000 4 0 2005 2007
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: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		disease 0.310 None 1.000 3 0 2004 2009
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: 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.400 None 0.941 2 0 2004 2017