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: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		phenotype Finding 4 2 0.300 None 0
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: C0011609
Disease: Drug Eruptions
Drug Eruptions 		group Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 23 0.300 None 1.000 1 2004 2004
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 60 2 0.300 None 1.000 1 2004 2004
CUI: C0406537
Disease: Morbilliform Drug Reaction
Morbilliform Drug Reaction 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 23 0.300 None 1.000 1 2004 2004
CUI: C0027540
Disease: Necrosis
Necrosis 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 55 0.300 None 1.000 1 2004 2004
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 11 4 0.300 None 1.000 1 2005 2005
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 60 0.310 None 1.000 1 2004 2005
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 14 61 0.300 None 1.000 1 2005 2005
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: C0917731
Disease: Male sterility
Male sterility 		phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2006 2006
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2006 2006
CUI: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.310 None 1.000 1 2002 2006
CUI: C0917730
Disease: Female sterility
Female sterility 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 28 0.300 None 1.000 1 2006 2006
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		group Immune System Diseases Pathologic Function 64 2 0.300 None 1.000 1 2006 2006
CUI: C0021361
Disease: Female infertility
Female infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 28 2 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: C0038279
Disease: Sterility, Postpartum
Sterility, Postpartum 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 28 0.300 None 1.000 1 2006 2006
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: 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: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.310 None 0.500 1 2006 2006
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2006 2006
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 72 0.300 None 1.000 1 2006 2006
CUI: C0025945
Disease: Microangiopathy, Diabetic
Microangiopathy, Diabetic 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.320 None 1.000 1 2003 2006
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