Dataset | CTD Gene-Disease Associations |
Category | disease or phenotype associations |
Type | disease |
Description | Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. (Orphanet Rare Disease Ontology, Orphanet_156) |
External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C535588 |
Similar Terms | |
Downloads & Tools |
1 genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.
Symbol | Name | Standardized Value |
---|---|---|
CPT1A | carnitine palmitoyltransferase 1A (liver) | 2.88009 |