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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.010 None < 0.001 1 1 2008 2008
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 37 2 0.010 None < 0.001 1 2014 2014
CUI: C0280803
Disease: Primary central nervous system lymphoma
Primary central nervous system lymphoma 		disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 156 4 0.010 None < 0.001 1 2 2010 2010
CUI: C0013238
Disease: Dry Eye Syndromes
Dry Eye Syndromes 		disease Eye Diseases Disease or Syndrome 156 1 0.010 None < 0.001 1 1 2015 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None < 0.001 1 4 2018 2018
CUI: C0349458
Disease: Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 1 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.010 None < 0.001 1 1 2013 2013
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.010 None < 0.001 1 2006 2006
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None < 0.001 1 1 2008 2008
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: C0584984
Disease: Heterozygous Factor V Leiden mutation
Heterozygous Factor V Leiden mutation 		disease Disease or Syndrome 6 0.010 None < 0.001 1 1999 1999
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.010 None < 0.001 1 1 2012 2012
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.010 None < 0.001 1 1 2015 2015
CUI: C0936215
Disease: Vitamin B 6 Deficiency
Vitamin B 6 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.010 None < 0.001 1 2001 2001
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None < 0.001 1 2001 2001
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None < 0.001 1 2004 2004
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None < 0.001 1 1 2014 2014
CUI: C0151281
Disease: Genital ulcers
Genital ulcers 		disease Disease or Syndrome 15 6 0.010 None < 0.001 1 1 2005 2005
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 58 14 0.010 None < 0.001 1 1 2013 2013
CUI: C4722099
Disease: High grade glioma
High grade glioma 		disease Neoplasms Neoplastic Process 190 15 0.010 None < 0.001 1 2006 2006
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None < 0.001 1 1997 1997
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None < 0.001 1 1 2019 2019
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None < 0.001 1 1 2005 2005
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 75 20 0.010 None < 0.001 1 1 2009 2009
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		disease Mental Disorders Mental or Behavioral Dysfunction 33 20 0.010 None < 0.001 1 1 2019 2019
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None < 0.001 1 4 2018 2018