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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Autosomal dominant macrothrombocytopenia
Adult-onset distal myopathy due to VCP mutation

ACTN1 VCP
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTN1
(0.63)
VCP



Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Adult-onset distal myopathy due to VCP mutation
VCP



Autosomal dominant macrothrombocytopenia
Adult-onset distal myopathy due to VCP mutation

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic 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: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.