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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
Congenital myopathy with excess of thin filaments
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ACTA1
(UniProt - OMIM)
 ISG15
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.63)
ISG15


Citations in the biomedical literature:


Congenital myopathy with excess of thin filaments
ACTA1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Congenital myopathy with excess of thin filaments
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
- Actin myopathy
Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.