GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931585
Disease: Gaucher-like disease
Gaucher-like disease
0.300 GermlineCausalMutation disease ORPHANET Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 10636167 2000