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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary spherocytosis
4 OMIM references -
5 associated genes
No signs/symptoms info
Congenital myopathy with excess of thin filaments
Hereditary spherocytosis

ACTA1
(UniProt - OMIM)
 ANK1
(UniProt - OMIM)
EPB42
(UniProt - OMIM)
SLC4A1
(UniProt - OMIM)
SPTA1
(UniProt - OMIM)
SPTB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.52)
SPTA1


Citations in the biomedical literature:


Congenital myopathy with excess of thin filaments
ACTA1
Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB



Congenital myopathy with excess of thin filaments
Hereditary spherocytosis

Synonym(s):
- Actin myopathy
Synonym(s):
- Minkowski-Chauffard disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic 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: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103
No signs/symptoms info available.