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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial rhabdoid tumor
2 OMIM references -
2 associated genes
No signs/symptoms info
Congenital myopathy with excess of thin filaments
Familial rhabdoid tumor

ACTA1
(UniProt - OMIM)
 SMARCA4
(UniProt - OMIM)
SMARCB1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.63)
SMARCB1


Citations in the biomedical literature:


Congenital myopathy with excess of thin filaments
ACTA1
Familial rhabdoid tumor
SMARCA4 SMARCB1



Congenital myopathy with excess of thin filaments
Familial rhabdoid tumor

Synonym(s):
- Actin myopathy
Synonym(s):
- RTPS
- Rhabdoid tumor predisposition syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.