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

VCP
(UniProt - OMIM)
 APOB
(UniProt - OMIM)
LDLR
(UniProt - OMIM)
LDLRAP1
(UniProt - OMIM)
PCSK9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VCP
(0.73)
APOB


Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9



Adult-onset distal myopathy due to VCP mutation
Homozygous familial hypercholesterolemia

Synonym(s):
(no synonyms)

Synonym(s):
- HoFH
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.