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: C0409980
Disease: Primary antiphospholipid syndrome
Primary antiphospholipid syndrome 		disease Immune System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2001 2001
CUI: C0338507
Disease: Non-arteritic ischemic optic neuropathy
Non-arteritic ischemic optic neuropathy 		disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 1 2001 2001
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 204 22 0.010 None 1.000 1 2001 2001
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		disease Neoplasms Neoplastic Process 43 5 0.010 None 1.000 1 2001 2001
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: C0152096
Disease: Complete trisomy 18 syndrome
Complete 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: C0032969
Disease: Pregnancy in Diabetics
Pregnancy in Diabetics 		phenotype Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 50 1 0.010 None 1.000 1 1 2001 2001
CUI: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
Cervical Squamous Intraepithelial Neoplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 109 3 0.010 None 1.000 1 2001 2001
CUI: C0936215
Disease: Vitamin B 6 Deficiency
Vitamin B 6 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.010 None < 0.001 1 2001 2001
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 73 8 0.010 None 1.000 1 2001 2001
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 67 15 0.010 None 1.000 1 1 2001 2001
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		disease Digestive System Diseases; Neoplasms Neoplastic Process 422 55 0.010 None 1.000 1 2001 2001
CUI: C1298680
Disease: Occlusive stroke
Occlusive stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 1 0.010 None 1.000 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: 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 35 3 0.010 None 1.000 1 2002 2002
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 1 2002 2002
CUI: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 1 2002 2002
CUI: C4552318
Disease: Gastrointestinal adenocarcinoma
Gastrointestinal adenocarcinoma 		disease Neoplastic Process 9 3 0.010 None 1.000 1 1 2002 2002
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 21 4 0.010 None 1.000 1 1 2002 2002
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 16 0.010 None 1.000 1 2002 2002
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 245 42 0.010 None 1.000 1 2002 2002
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 103 24 0.010 None 1.000 1 2 2002 2002
CUI: C0015702
Disease: Favism
Favism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome 11 14 0.010 None 1.000 1 2 2002 2002
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 12 8 0.010 None 1.000 1 2002 2002
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 120 19 0.030 None 1.000 2 1998 2003