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Cholesterol-ester transfer protein deficiency
2 OMIM references -
2 associated genes
12 connected diseases
No signs/symptoms info
Disease Type of connection
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Congenital analbuminemia
Hereditary combined deficiency of vitamin K-dependent clotting factors
Familial lipoprotein lipase deficiency
Hyperlipoproteinemia type 5
Synonym(s):
- CEPT deficiency
- Familial hyperalphalipoproteinemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
APOC3 P02656107720
CETP P11597118470
No signs/symptoms info available.