GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Sense of smell impaired ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 GeneticVariation phenotype BEFREE Participants belonging to the following cohorts of the Parkinson Progression Markers Initiative (PPMI) study were included: de novo PD with dopamine transporter binding deficit (n = 423), idiopathic REM sleep behavior disorder (RBD, n = 39), hyposmia (n = 26) and non-PD mutation carrier (NMC; Leucine-rich repeat kinase 2 (LRRK2) G2019S (n = 88) and glucocerebrosidase (GBA) gene (n = 38) mutations)). 30125297 2018
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 Biomarker phenotype HPO