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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Familial thoracic aortic aneurysm and aortic dissection

APOB ACTA2
LDLR FBN1
LDLRAP1 MYH11
PCSK9 MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOB
(0.63)
SMAD3



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Homozygous familial hypercholesterolemia
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
- HoFH

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

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

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:
8 OMIM references -
No MeSH references

No signs/symptoms info available.