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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
7 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Translocation renal cell carcinoma

APOB ASPSCR1
LDLR CLTC
LDLRAP1 NONO
PCSK9 PRCC
SFPQ
TFE3
TFEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LDLRAP1
(0.75)
CLTC



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB



Homozygous familial hypercholesterolemia
Translocation renal cell carcinoma

Synonym(s):
- HoFH

Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

No signs/symptoms info available.