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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Extraskeletal Ewing sarcoma
Pyruvate dehydrogenase E3-binding protein deficiency

ERG PDHX
EWSR1
FLI1
SMARCA5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EWSR1
(0.73)
PDHX



Citations in the biomedical literature:


Extraskeletal Ewing sarcoma
ERG EWSR1 FLI1 SMARCA5
Pyruvate dehydrogenase E3-binding protein deficiency
PDHX



Extraskeletal Ewing sarcoma
Pyruvate dehydrogenase E3-binding protein deficiency

Synonym(s):
- EOE
- Extraosseous Ewing sarcoma
- Extraosseous Ewing tumor
- Extraskeletal Ewing tumor

Synonym(s):
- 2-oxoglutarate complex deficiency
- Branched chain alpha-ketoacid dehydrogenase complex deficiency
- Diaphorase deficiency
- Dihydrolipoyl dehydrogenase deficiency
- Glycine cleavage system L protein deficiency
- Lipoamide dehydrogenase deficiency
- Pyruvate dehydrogenase complex component E3 deficiency
- Pyruvate dehydrogenase protein X component deficiency

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.