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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2B
Severe congenital nemaline myopathy

DYSF ACTA1
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYSF
(0.65)
NEB



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF
Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB



Autosomal recessive limb-girdle muscular dystrophy type 2B
Severe congenital nemaline myopathy

Synonym(s):
- LGMD2B
- Limb-girdle muscular dystrophy due to dysferlin deficiency

Synonym(s):
(no synonyms)

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: 1-9 / 1 000 000
Average age onset: adulthood
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:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.