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: C1739111
Disease: Fetus affected by placental transfer of anticonvulsant
Fetus affected by placental transfer of anticonvulsant 		disease Disease or Syndrome 1 2 0.010 None 1.000 1 1 1999 1999
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None < 0.001 1 2001 2001
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		disease Digestive System Diseases; Neoplasms Neoplastic Process 421 65 0.010 None 1.000 1 1 2008 2008
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 12 8 0.010 None 1.000 1 2002 2002
CUI: C0221065
Disease: Subacute Combined Degeneration
Subacute Combined Degeneration 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2018 2018
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 256 10 0.010 None 1.000 1 2017 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1340 139 0.010 None 1.000 1 2016 2016
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		disease Neoplasms Neoplastic Process 179 7 0.010 None 1.000 1 2007 2007
CUI: C0262586
Disease: Osteopenia/osteoporosis
Osteopenia/osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 16 4 0.010 None 1.000 1 1 2012 2012
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 233 48 0.010 None 1.000 1 1 2012 2012
CUI: C0263725
Disease: Hemophilic arthropathy
Hemophilic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 22 0.010 None 1.000 1 2019 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 202 79 0.010 None 1.000 1 2013 2013
CUI: C0265706
Disease: Gastroschisis
Gastroschisis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 8 0.010 None 1.000 1 1 2016 2016
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 94 0.010 None 1.000 1 2008 2008
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 8 0.010 None 1.000 1 1997 1997
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 119 74 0.010 None 1.000 1 2 2004 2004
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 28 16 0.010 None 1.000 1 1 2019 2019
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		disease Disease or Syndrome 37 17 0.010 None 1.000 1 1 2016 2016
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 95 20 0.010 None 1.000 1 1993 1993
CUI: C0241950
Disease: Intestinal infarction
Intestinal infarction 		disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C0221165
Disease: Diplegia
Diplegia 		disease Disease or Syndrome 4 2 0.010 None 1.000 1 2 2005 2005
CUI: C0221166
Disease: Paraparesis
Paraparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 10 2 0.010 None 1.000 1 2 2018 2018
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 1 4 0.010 None 1.000 1 4 2015 2015
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2 2006 2006
CUI: C0235522
Disease: Disorder of vein
Disorder of vein 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2000 2000