TXN2, thioredoxin 2, 25828

N. diseases: 76; N. variants: 1
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
disease Disease or Syndrome 1 0.500 None 1.000 1 2016 2016
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.310 None 1.000 1 2009 2009
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2009 2009
CUI: C0266508
Disease: Rachischisis
Rachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 0.300 None 1.000 1 2009 2009
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 2 2004 2010
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 1 2008 2008
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2009 2009
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone
phenotype Nervous System Diseases Finding 14 7 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 0.100 None 0
CUI: C0563243
Disease: Poor coordination
Poor coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy
phenotype Pathologic Function 41 6 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Gastrojejunal tube feeding in infancy
phenotype Finding 1 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 2 0.100 None 0
Decreased activity of mitochondrial complex III
phenotype Finding 5 0.100 None 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype Finding 108 0.100 None 0