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: C0027562
Disease: Negativism
Negativism
phenotype Behavior and Behavior Mechanisms Individual Behavior 12 0.100 None 0
CUI: C3550150
Disease: Recurrent thrombophlebitis
Recurrent thrombophlebitis
phenotype Cardiovascular Diseases Finding 5 0.100 None 0
THROMBOPHILIA DUE TO THROMBIN DEFECT
phenotype Finding 4 2 0.300 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: C0040038
Disease: Thromboembolism
Thromboembolism
phenotype Cardiovascular Diseases Pathologic Function 25 3 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: 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
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.100 None 0 1
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
phenotype Finding 11 1 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
Social and occupational deterioration
phenotype Mental Disorders Finding 13 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: C0011253
Disease: Delusions
Delusions
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 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: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity
phenotype Disease or Syndrome 75 2 0.020 None < 0.001 2 2005 2007
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None < 0.001 1 1 2014 2014
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None < 0.001 1 4 2018 2018
CUI: C0009088
Disease: Cluster Headache
Cluster Headache
disease Nervous System Diseases Disease or Syndrome 38 13 0.010 None < 0.001 1 2 2011 2011
CUI: C0852733
Disease: Completed Suicide
Completed Suicide
phenotype Mental or Behavioral Dysfunction 33 33 0.010 None < 0.001 1 2 2012 2012
CUI: C0007775
Disease: Cerebral Atherosclerosis
Cerebral Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 2 0.010 None < 0.001 1 1 2011 2011
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.010 None < 0.001 1 1 2008 2008
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None < 0.001 1 2011 2011