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

ISG15
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
KLHL40
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)

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


Citations in the biomedical literature:


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



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

Synonym(s):
- MSMD due to complete ISG15 deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
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
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.