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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe congenital nemaline myopathy
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy

ACTA1 MYO6
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.52)
MYO6



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
MYO6



Severe congenital nemaline myopathy
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy

Synonym(s):
(no synonyms)

Synonym(s):
- Progressive neurosensory deafness - hypertrophic cardiomyopathy
- Progressive neurosensory hearing loss - hypertrophic cardiomyopathy
- Progressive sensorineural deafness - hypertrophic cardiomyopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.