MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Source: CURATED ×
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: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		disease Disease or Syndrome 1 75 0.800 definitive 1.000 16 75 1991 2019
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: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.700 definitive 1.000 7 1991 2019
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 1 2005 2006
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		disease Cardiovascular Diseases Disease or Syndrome 1 0.320 None 1.000 1 2007 2018
CUI: C0524948
Disease: Maxillofacial Abnormalities
Maxillofacial Abnormalities 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2006 2006
CUI: C0852077
Disease: Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders, Inherited 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2007 2007
CUI: C1148477
Disease: Deafness, Sudden
Deafness, Sudden 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 1 0.300 None 1.000 1 2006 2006
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		disease Finding 1 6 0.400 strong 1.000 1 6 2016 2016
CUI: C0037198
Disease: Sinus Thrombosis, Intracranial
Sinus Thrombosis, Intracranial 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.330 None 1.000 1 2008 2014
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 2 0.310 None 1.000 1 2008 2008
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 2 0.400 None 0.941 1 2000 2019
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
CUI: C0751502
Disease: Petrous Sinus Thrombosis
Petrous Sinus Thrombosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2008 2008
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 3 0.310 None 1.000 1 2006 2006
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.320 None 1.000 1 2003 2014
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 0.440 None 1.000 1 1996 2015
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 4 0.470 None 1.000 1 1 1999 2015
CUI: C0086664
Disease: Myelocele
Myelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 1 0.300 None 1.000 1 2006 2006
CUI: C0751316
Disease: Acquired Meningomyelocele
Acquired Meningomyelocele 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality 4 0.300 None 1.000 1 2006 2006
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 2 0.500 None 1.000 0 2001 2001
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		phenotype Finding 4 2 0.300 None 0
CUI: C0001723
Disease: Affective Disorders, Psychotic
Affective Disorders, Psychotic 		group Mental Disorders Mental or Behavioral Dysfunction 5 0.310 None 1.000 1 2005 2005
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 35 0.320 None 1.000 1 2006 2016