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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Rare isolated myopia

APOB LEPREL1
LDLR LRPAP1
LDLRAP1 SCO2
PCSK9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LDLR
(0.76)
LRPAP1



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Rare isolated myopia
LEPREL1 LRPAP1 SCO2



Homozygous familial hypercholesterolemia
Rare isolated myopia

Synonym(s):
- HoFH

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.