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: 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: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		disease 0.400 None 0.941 1 0 2000 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.400 None 0.872 1 0 2003 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group 0.400 None 1.000 1 0 2001 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
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 1 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease 0.340 None 1.000 1 0 2006 2009
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.330 None 1.000 1 0 2004 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease 0.310 None 1.000 1 0 2004 2005
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group 0.310 None 1.000 1 0 2007 2009
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011057
Disease: Hearing Loss, Sudden
Hearing Loss, Sudden 		phenotype 0.310 None 1.000 1 0 2005 2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		disease 0.100 None 1.000 1 0 2003 2020
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: C0154723
Disease: Migraine with Aura
Migraine with Aura 		disease 0.100 None 0.889 1 0 2004 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.100 None 0.963 1 0 1999 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.100 None 0.900 1 0 2003 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group 0.100 None 0.976 1 0 2000 2019
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: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease 0.100 None 0.600 1 0 2003 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease 0.070 None 0.714 1 0 2000 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group 0.060 None 1.000 1 0 2007 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease 0.060 None 1.000 1 0 2003 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0025286
Disease: Meningioma
Meningioma 		disease 0.050 None 0.800 1 0 2006 2017
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