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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Progressive non-fluent aphasia

APOB C9ORF72
LDLR CHMP2B
LDLRAP1 GRN
PCSK9 MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Homozygous familial hypercholesterolemia
Progressive non-fluent aphasia

Synonym(s):
- HoFH

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D057178

No signs/symptoms info available.