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.
Xeroderma Pigmentosum, Complementation Group D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.010 None 1.000 1 2008 2008
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms
phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.010 None 1.000 1 2008 2008
CUI: C0043144
Disease: Wheezing
Wheezing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.020 None 0.500 2 1 2012 2013
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2 2010 2010
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.040 None 1.000 4 3 2012 2020
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.040 None 1.000 4 3 2012 2020
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency
group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2006 2006
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT
phenotype Laboratory Procedure 13 22 0.100 None 1.000 1 1 2009 2009
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: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.100 None 0.909 11 4 1997 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None < 0.001 1 1 2019 2019
CUI: C0240912
Disease: Vertical Talus
Vertical Talus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.050 None 0.800 5 2 2002 2013
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.010 None 1.000 1 1 2017 2017
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.330 None 1.000 4 2007 2009
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.100 None 0.838 37 3 1997 2019
CUI: C0339505
Disease: Venous retinal branch occlusion
Venous retinal branch occlusion
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 25 7 0.020 None 1.000 2 1 2002 2010
CUI: C0750151
Disease: Vaso-Occlusive Crisis
Vaso-Occlusive Crisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 5 0.010 None 1.000 1 1 2019 2019
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
Vasculogenic erectile dysfunction
disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 6 3 0.010 None 1.000 1 1 2010 2010
CUI: C1096458
Disease: Vascular occlusion
Vascular occlusion
disease Cardiovascular Diseases Disease or Syndrome 30 2 0.010 None 1.000 1 1 1999 1999
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.010 None 1.000 1 1 2013 2013
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.400 None 0.977 43 2 1995 2016
CUI: C3805043
Disease: Vascular cognitive impairment
Vascular cognitive impairment
disease Disease or Syndrome 42 1 0.020 None 1.000 2 1 2013 2016
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.030 None 1.000 3 3 2011 2016
CUI: C0042341
Disease: Varicocele
Varicocele
disease Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 99 3 0.010 None 1.000 1 1 2015 2015
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 140 72 0.300 None 1.000 1 2007 2007