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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.400 None 1.000 14 2002 2015
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 11 2005 2016
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		group Chemically-Induced Disorders Injury or Poisoning 86 0.300 None 1.000 11 2005 2016
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 7 1994 2017
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.170 None 1.000 7 1996 2019
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.060 None 1.000 6 2003 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.340 None 1.000 5 2004 2008
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 52 4 0.300 None 1.000 5 2008 2014
CUI: C0040053
Disease: Thrombosis
Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 98 0.050 None 1.000 5 2005 2007
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.330 None 1.000 4 2007 2009
CUI: C0432416
Disease: Down Syndrome, Partial Trisomy 21
Down Syndrome, Partial Trisomy 21 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 4 2005 2007
CUI: C0751081
Disease: Trisomy 21, Mitotic Nondisjunction
Trisomy 21, Mitotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 4 2005 2007
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.040 None 1.000 4 2006 2011
CUI: C0432417
Disease: Trisomy 21, Meiotic Nondisjunction
Trisomy 21, Meiotic Nondisjunction 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 4 2005 2007
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: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.330 None 1.000 3 2005 2008
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 166 14 0.030 None 1.000 3 2004 2008
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.030 None 1.000 3 2011 2019
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: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.030 None 1.000 3 2008 2017
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 168 88 0.030 None 1.000 3 2005 2015
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 135 19 0.030 None 1.000 3 1998 2003
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 2 2008 2009
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.020 None 1.000 2 2007 2008
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.020 None 1.000 2 2007 2013