alpha-methylacyl-coa racemase deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. (Orphanet Rare Disease Ontology, Orphanet_79095)
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1 genes associated with the alpha-methylacyl-coa racemase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
AMACR alpha-methylacyl-CoA racemase