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: C0206064
Disease: Microvascular Angina
Microvascular Angina 		disease Cardiovascular Diseases Disease or Syndrome 1 0.320 None 1.000 1 2007 2018
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 2 0.400 None 0.941 1 2000 2019
CUI: C0221074
Disease: Depression, Postpartum
Depression, Postpartum 		disease Female Urogenital Diseases and Pregnancy Complications; Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2012 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.400 None 0.875 1 2004 2019
CUI: C0263477
Disease: Female pattern alopecia (disorder)
Female pattern alopecia (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.300 None 1.000 1 2008 2008
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0266508
Disease: Rachischisis
Rachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2017 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 11 4 0.300 None 1.000 1 2005 2005
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2014 2014
CUI: C0274862
Disease: Nervous System, Organic Arsenic Poisoning
Nervous System, Organic Arsenic Poisoning 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2014 2014
CUI: C0156147
Disease: Crohn's disease of large bowel
Crohn's disease of large bowel 		disease Digestive System Diseases Disease or Syndrome 44 0.300 None 1.000 1 2016 2016
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 100 0.300 None 1.000 1 2007 2007
CUI: C0282126
Disease: Depression, Neurotic
Depression, Neurotic 		disease Mental Disorders Mental or Behavioral Dysfunction 41 0.300 None 1.000 1 2007 2007
CUI: C0267380
Disease: Crohn's disease of the ileum
Crohn's disease of the ileum 		disease Digestive System Diseases Disease or Syndrome 44 0.300 None 1.000 1 2016 2016
CUI: C0333355
Disease: Inflammatory disease of mucous membrane
Inflammatory disease of mucous membrane 		group Digestive System Diseases; Stomatognathic Diseases Pathologic Function 8 0.300 None 1.000 1 2007 2007
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2012 2012
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2009 2009
CUI: C0949272
Disease: IIeocolitis
IIeocolitis 		disease Digestive System Diseases Disease or Syndrome 44 1 0.300 None 1.000 1 2016 2016
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: C1527304
Disease: Allergic Reaction
Allergic Reaction 		phenotype Immune System Diseases Pathologic Function 63 1019 0.300 None 1.000 1 2006 2006
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2009 2009
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 101 0.300 None 1.000 1 2008 2008
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2007 2007
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 33 0.370 None 0.875 1 2006 2014
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