Source: BEFREE

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: C0086543
Disease: Cataract
Cataract 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		disease 0.010 None 1.000 1 1 2008 2008
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease 0.010 None < 0.001 1 1 2009 2009
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0162529
Disease: Colitis, Ischemic
Colitis, Ischemic 		disease 0.010 None 1.000 1 2 2015 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease 0.010 None 1.000 1 1 2016 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		disease 0.010 None 1.000 1 1 2016 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		disease 0.010 None 1.000 1 1 2012 2012
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.010 None 1.000 1 1 2003 2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		group 0.010 None < 0.001 1 2 2016 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease 0.010 None 1.000 1 1 2014 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease 0.010 None 1.000 1 1 1999 1999
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease 0.010 None 1.000 1 1 2014 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0150055
Disease: Chronic pain
Chronic pain 		phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0151281
Disease: Genital ulcers
Genital ulcers 		disease 0.010 None < 0.001 1 1 2005 2005
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		disease 0.010 None 1.000 1 2 2017 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		disease 0.010 None 1.000 1 1 2008 2008