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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Adult-onset distal myopathy due to VCP mutation
Timothy syndrome

VCP CACNA1C


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
CACNA1C



Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Timothy syndrome
CACNA1C



Adult-onset distal myopathy due to VCP mutation
Timothy syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- LQT8
- Long QT syndrome - syndactyly
- Long QT syndrome type 8

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536962

No signs/symptoms info available.