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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
1 OMIM reference -
2 associated genes
No signs/symptoms info
Congenital myopathy with excess of thin filaments
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ACTA1
(UniProt - OMIM)
 BTK
(UniProt - OMIM)
ELF4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.75)
BTK


Citations in the biomedical literature:


Congenital myopathy with excess of thin filaments
ACTA1
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4



Congenital myopathy with excess of thin filaments
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Synonym(s):
- Actin myopathy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- 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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.