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: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.010 None 1.000 1 2010 2010
CUI: C0277005
Disease: Opisthorchis viverrini Infection
Opisthorchis viverrini Infection 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 37 23 0.010 None 1.000 1 2002 2002
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None < 0.001 1 4 2018 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 3 2015 2015
CUI: C1273976
Disease: First myocardial infarction
First myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 17 7 0.010 None < 0.001 1 2001 2001
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1997 1997
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.010 None 1.000 1 2 2020 2020
CUI: C0751007
Disease: Intracranial Atherosclerosis
Intracranial Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 1 2013 2013
CUI: C0029445
Disease: Bone necrosis
Bone necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 23 5 0.010 None 1.000 1 2002 2002
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.010 None 1.000 1 2 2011 2011
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 1.000 1 2 2007 2007
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.010 None 1.000 1 2000 2000
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2015 2015
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2017 2017
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		disease Digestive System Diseases; Neoplasms Neoplastic Process 425 81 0.010 None 1.000 1 1 2008 2008
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
Metastatic non-small cell lung cancer 		disease Neoplasms Neoplastic Process 106 11 0.010 None 1.000 1 1 2004 2004
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.010 None 1.000 1 2012 2012
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2018 2018
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		group Infections Disease or Syndrome 183 14 0.010 None 1.000 1 2 2016 2016
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		disease Neoplasms Neoplastic Process 179 34 0.010 None 1.000 1 2008 2008
CUI: C0027497
Disease: Nausea
Nausea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.010 None 1.000 1 2011 2011
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 28 11 0.010 None 1.000 1 2 2010 2010
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 42 16 0.010 None 1.000 1 1 2019 2019