Annotation Detail

Information
Associated Genes
GBA1
Associated Variants
GBA1 MUTATION
GBA1 MUTATION
Associated Disease
Lewy Body Disease
Source Database
DisGeNET
Description
Despite the wealth of experimental, clinical and genetic evidence that supports the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear.
Pubmed
25573151
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.133082748643237
Drugs