GBA1

GBA1 classifies variants in the GBA1 gene associated with Parkinson's disease into severity and risk categories to support genetic analysis of PD and its relation to Gaucher's disease (GD).

Key Features:

• Comprehensive Database: Contains 371 GBA1 variants reported in Parkinson's disease, including 22 mild variants, 84 severe variants, 3 PD risk variants, and 262 variants of unknown status.
• Variant Classification: Categorizes variants as severe, mild, or risk based on their association with Gaucher's disease (GD) or Parkinson's disease.
• Standardized Data and Statistical Annotations: Provides standardized variant entries that include classification details and odds ratios where available.

Scientific Applications:

• Basic Research: Enables investigation of molecular and genetic mechanisms linking GBA1 variation to Parkinson's disease pathogenesis.
• Translational Research: Informs development of targeted therapeutic strategies by relating variant class to disease association.
• Clinical Trials: Supports patient stratification and selection in PD clinical studies based on GBA1 variant status.

Methodology:

Variants were identified through an extensive literature search and the data were standardized and supplemented with classification labels and odds ratios where available.