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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Hereditary spherocytosis

ACTA1 ANK1
KLHL40 EPB42
KLHL41 SLC4A1
NEB SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB



Severe congenital nemaline myopathy
Hereditary spherocytosis

Synonym(s):
(no synonyms)

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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
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:
No OMIM references
No MeSH references
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103

No signs/symptoms info available.