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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Autoimmune lymphoproliferative syndrome

ACTA1 CASP10
KLHL40 FAS
KLHL41 FASLG
NEB NRAS
PRKCD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.55)
PRKCD



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Autoimmune lymphoproliferative syndrome
CASP10 FAS FASLG NRAS PRKCD



Severe congenital nemaline myopathy
Autoimmune lymphoproliferative syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ALPS
- Canale-Smith syndrome
- FAS deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic 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: unknown
Average age onset: variable
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: D056735

No signs/symptoms info available.