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: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		phenotype Finding 4 2 0.300 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		phenotype Cardiovascular Diseases Pathologic Function 25 3 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 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: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 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: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		disease Finding 11 30 0.100 None 0 1
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 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: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis 		phenotype Cardiovascular Diseases Finding 5 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: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0027562
Disease: Negativism
Negativism 		phenotype Behavior and Behavior Mechanisms Individual Behavior 12 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: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.100 None 0
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 2 0.500 None 1.000 1 2001 2001
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function 93 16 0.400 None 1.000 1 2008 2008
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		disease Finding 1 6 0.400 strong 1.000 1 6 2016 2016
CUI: C0001723
Disease: Affective Disorders, Psychotic
Affective Disorders, Psychotic 		group Mental Disorders Mental or Behavioral Dysfunction 17 10 0.310 None 1.000 1 2005 2005
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.310 None 1.000 1 4 2009 2009
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.310 None 1.000 1 2006 2006
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 37 7 0.310 None 1.000 1 2008 2008
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2007 2007