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.
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 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: 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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 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: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
phenotype Finding 28 13 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
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy
phenotype Finding 17 4 0.100 None 0
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration
phenotype Finding 17 0.100 None 0