Cytoscape Web
Click node...


4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Neurofibromatosis type 3

ACTA1 LZTR1
KLHL40 NF2
KLHL41 SMARCB1
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
SMARCB1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Neurofibromatosis type 3
LZTR1 NF2 SMARCB1



Severe congenital nemaline myopathy
Neurofibromatosis type 3

Synonym(s):
(no synonyms)

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C536641

No signs/symptoms info available.