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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe congenital nemaline myopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ACTA1 ISG15
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
ISG15



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Severe congenital nemaline myopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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:
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: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.