MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Source: BEFREE ×
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: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 95 20 0.010 None 1.000 1 1993 1993
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.020 None 1.000 2 1 1997 1997
CUI: C0268611
Disease: Arakawa syndrome 2
Arakawa syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.020 None 1.000 2 1 1997 1997
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 8 0.010 None 1.000 1 1997 1997
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 2 0.010 None < 0.001 1 1997 1997
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 1997 1997
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 198 139 0.010 None 1.000 1 1 1998 1998
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 177 133 0.010 None 1.000 1 1 1998 1998
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 293 4 0.010 None 1.000 1 1 1999 1999
CUI: C1739111
Disease: Fetus affected by placental transfer of anticonvulsant
Fetus affected by placental transfer of anticonvulsant 		disease Disease or Syndrome 1 2 0.010 None 1.000 1 1 1999 1999
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 105 4 0.010 None 1.000 1 1 1999 1999
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: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 79 13 0.010 None 1.000 1 1999 1999
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: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		disease Skin and Connective Tissue Diseases Disease or Syndrome 103 3 0.010 None 1.000 1 1 1999 1999
CUI: C0003838
Disease: Arterial Occlusive Diseases
Arterial Occlusive Diseases 		group Cardiovascular Diseases Disease or Syndrome 25 4 0.030 None 1.000 3 1 1999 2000
CUI: C1306889
Disease: Peripheral arterial occlusive disease
Peripheral arterial occlusive disease 		disease Cardiovascular Diseases Disease or Syndrome 35 3 0.010 None 1.000 1 1 2000 2000
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 32 5 0.010 None 1.000 1 2000 2000
CUI: C0339467
Disease: Proliferative retinopathy
Proliferative retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 57 7 0.010 None 1.000 1 1 2000 2000
CUI: C0011268
Disease: Senile dementia
Senile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 0.010 None 1.000 1 2000 2000
CUI: C0398621
Disease: Hypoplasminogenemia
Hypoplasminogenemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 1 2000 2000
CUI: C0235522
Disease: Disorder of vein
Disorder of vein 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2000 2000
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 164 15 0.010 None 1.000 1 2000 2000
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 163 21 0.020 None 1.000 2 2001 2001
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		group Cardiovascular Diseases Disease or Syndrome 61 5 0.020 None 1.000 2 2000 2001