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Pelizaeus-Merzbacher-like due to HSPD1 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Extraskeletal Ewing sarcoma
4 associated genes
No signs/symptoms info
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Extraskeletal Ewing sarcoma

HSPD1
(UniProt - OMIM)
 ERG
(UniProt - OMIM)
EWSR1
(UniProt - OMIM)
FLI1
(UniProt - OMIM)
SMARCA5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HSPD1
(0.68)
ERG


Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Extraskeletal Ewing sarcoma
ERG EWSR1 FLI1 SMARCA5



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Extraskeletal Ewing sarcoma

Synonym(s):
- Mitochondrial HSP60 chaperonopathy
Synonym(s):
- EOE
- Extraosseous Ewing sarcoma
- Extraosseous Ewing tumor
- Extraskeletal Ewing tumor
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.