MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Source: BEFREE ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 385 111 0.010 None 1.000 1 2005 2005
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 164 15 0.010 None 1.000 1 2000 2000
CUI: C0158629
Disease: Congenital anomaly of aortic arch
Congenital anomaly of aortic arch 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 5 0.010 None 1.000 1 2007 2007
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 85 10 0.010 None 1.000 1 1 2008 2008
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 755 62 0.010 None < 0.001 1 1 2009 2009
CUI: C0162529
Disease: Colitis, Ischemic
Colitis, Ischemic 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2 2015 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 90 0.010 None 1.000 1 2006 2006
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 112 69 0.010 None 1.000 1 1 2016 2016
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110 0.010 None 1.000 1 2004 2004
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		disease Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 250 20 0.010 None 1.000 1 1 2016 2016
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 91 7 0.010 None 1.000 1 1 2012 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1 2003 2003
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia 		disease Neoplasms Neoplastic Process 160 3 0.010 None 1.000 1 2015 2015
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.010 None 1.000 1 2012 2012
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 33 13 0.010 None < 0.001 1 2 2016 2016
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 32 9 0.010 None 1.000 1 1 2014 2014
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 105 4 0.010 None 1.000 1 1 1999 1999
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 75 10 0.010 None 1.000 1 2008 2008
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 1 2014 2014
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 68 3 0.010 None 1.000 1 2012 2012
CUI: C0150055
Disease: Chronic pain
Chronic pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 201 17 0.010 None 1.000 1 2018 2018
CUI: C0151281
Disease: Genital ulcers
Genital ulcers 		disease Disease or Syndrome 13 6 0.010 None < 0.001 1 1 2005 2005
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 6 0.010 None 1.000 1 2018 2018
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None 1.000 1 2 2017 2017
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		disease Disease or Syndrome 20 8 0.010 None 1.000 1 1 2008 2008