Annotation Detail

Information
Associated Genes
GBA1
Associated Variants
GBA1 MUTATION
GBA1 MUTATION
Associated Disease
kidney failure
Source Database
DisGeNET
Description
These data provide new insights into the mechanisms involved in the intracellular trafficking of GCase and in the pathogeneses of GD and AMRF syndrome.
Pubmed
26018676
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs