|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (Human Disease Ontology, DOID_1926)|
|Downloads & Tools|
1 genes associated with the Gaucher disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|GBA||glucosidase, beta, acid|