Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Asp448His (p.D448H)
(
ENST00000327247.9,
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type Iiic
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs