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: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C1866986
Disease: Social and occupational deterioration
Social and occupational deterioration 		phenotype Mental Disorders Finding 13 0.100 None 0
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.100 None 0
CUI: C0027562
Disease: Negativism
Negativism 		phenotype Behavior and Behavior Mechanisms Individual Behavior 12 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		phenotype Finding 4 2 0.300 None 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0 1
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis 		phenotype Cardiovascular Diseases Finding 5 0.100 None 0
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		disease Finding 11 30 0.100 None 0 1
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 1993 1993
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		disease Endocrine System Diseases Disease or Syndrome 279 27 0.200 None 1.000 1 1994 1994
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 1994 1994
CUI: C0268611
Disease: Arakawa syndrome 2
Arakawa syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 1 1997 1997
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 2 9 0.020 None 1.000 2 1 1997 1997
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: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.010 None 1.000 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 44 35 0.010 None 1.000 1 1997 1997