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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 GeneticVariation phenotype BEFREE More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). 19458969 2010
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 GeneticVariation phenotype CLINVAR
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.110 SusceptibilityMutation phenotype CLINVAR