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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated focal cortical dysplasia type IIb
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital myopathy with excess of thin filaments
Isolated focal cortical dysplasia type IIb

ACTA1
(UniProt - OMIM)
 TSC1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.55)
TSC1


Citations in the biomedical literature:


Congenital myopathy with excess of thin filaments
ACTA1
Isolated focal cortical dysplasia type IIb
TSC1



Congenital myopathy with excess of thin filaments
Isolated focal cortical dysplasia type IIb

Synonym(s):
- Actin myopathy
Synonym(s):
- FCD type IIb
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.