MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
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: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 7 1994 2017
CUI: C0011057
Disease: Hearing Loss, Sudden
Hearing Loss, Sudden
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 0.310 None 1.000 2 2005 2006
CUI: C0241950
Disease: Intestinal infarction
Intestinal infarction
disease Disease or Syndrome 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C0270639
Disease: Lateral Sinus Thrombosis
Lateral Sinus Thrombosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2008 2008
CUI: C0340324
Disease: Silent myocardial infarction
Silent myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2015 2015
CUI: C0393992
Disease: Multicystic Encephalomalacia
Multicystic Encephalomalacia
disease Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2008 2008
CUI: C0856862
Disease: Posterior cerebral artery occlusion
Posterior cerebral artery occlusion
phenotype Anatomical Abnormality 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C0861461
Disease: Stage IV Colon Carcinoma
Stage IV Colon Carcinoma
disease Neoplastic Process 1 1 0.010 None 1.000 1 1 2009 2009
Fetus affected by placental transfer of anticonvulsant
disease Disease or Syndrome 1 2 0.010 None 1.000 1 1 1999 1999
malignant neoplasm of large intestine stage IV
disease Neoplastic Process 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C3536740
Disease: Cervical meningomyelocele
Cervical meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 1 0.010 None 1.000 1 1 2006 2006
CUI: C3825293
Disease: Headache in children
Headache in children
phenotype Sign or Symptom 1 1 0.010 None 1.000 1 1 2018 2018
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
disease Finding 1 6 0.400 strong 1.000 1 6 2016 2016
Neonatal thrombosis of cerebral venous sinus
disease Disease or Syndrome 1 2 0.010 None 1.000 1 1 2019 2019
Homocystinuria without methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C4525128
Disease: Stage IV Colon Cancer AJCC v8
Stage IV Colon Cancer AJCC v8
disease Neoplastic Process 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C0268611
Disease: Arakawa syndrome 2
Arakawa syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 1 1997 1997
CUI: C1610621
Disease: Factor II mutation
Factor II mutation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.020 None 1.000 2 1 2010 2012
Methylcobalamin Deficiency, CblG Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 9 0.020 None 1.000 2 1 1997 1997
CUI: C0014670
Disease: Equinus Deformity
Equinus Deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C0343525
Disease: Lemierre Syndrome
Lemierre Syndrome
disease Infections; Stomatognathic Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0427418
Disease: Folic acid measurement, RBC
Folic acid measurement, RBC
phenotype Laboratory Procedure 2 2 0.100 None 1.000 1 1 2018 2018
CUI: C0524948
Disease: Maxillofacial Abnormalities
Maxillofacial Abnormalities
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 2 0.300 None 1.000 1 2006 2006
CUI: C0751500
Disease: Petrous Sinus Thrombophlebitis
Petrous Sinus Thrombophlebitis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0751501
Disease: Intracranial Sinus Thrombophlebitis
Intracranial Sinus Thrombophlebitis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008