Gaucher Disease Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
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4 genes/proteins associated with the disease Gaucher Disease from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CHIT1 chitinase 1 (chitotriosidase) 2.88009
ACE angiotensin I converting enzyme 2.88009
GBA glucosidase, beta, acid 2.88009
SNCA synuclein, alpha (non A4 component of amyloid precursor) 2.88009