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.
5,10-Methylenetetrahydrofolate reductase deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 6 6 0.030 None 1.000 3 1 1995 2009
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.170 None 1.000 7 2 1997 2018
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C0000809
Disease: Abortion, Habitual
Abortion, Habitual
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.010 None 1.000 1 2005 2005
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 12 0.030 None 1.000 3 2007 2007
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: C2585317
Disease: Acquired thrombophilia
Acquired thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 8 2 0.020 None 1.000 2 1 2002 2005
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 1 2012 2012
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.010 None 1.000 1 4 2015 2015
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.020 None 1.000 2 1 2014 2015
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.080 None 1.000 8 3 1999 2016
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2 0.310 None 1.000 4 2004 2009
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 1 2017 2017
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2007 2007
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.030 None 0.667 3 1 2013 2019
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
disease Immune System Diseases Disease or Syndrome 294 49 0.040 None 0.750 4 1 2004 2009
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.300 None 1.000 1 2008 2008
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 104 0.300 None 1.000 1 2008 2008
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.100 None 0.917 12 4 1999 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 0.946 74 7 1999 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 1 2003 2003
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.100 None 1.000 11 3 2003 2019
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia
disease Cardiovascular Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2 2019 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2009 2009