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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Cap myopathy

ACTA1 TPM2
KLHL40 TPM3
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
ACTA1
(0.65)
(0.56)
TPM3
TPM2



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Cap myopathy
TPM2 TPM3



Severe congenital nemaline myopathy
Cap myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- Cap disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

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 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.