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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe congenital nemaline myopathy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ACTA1 BTK
KLHL40 ELF4
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.75)
BTK



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4



Severe congenital nemaline myopathy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- 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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.