Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Asp448His (p.D448H)
(
ENST00000327247.9,
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asp448His (p.D448H) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Phe252Ile (p.F252I) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type 1
- Source Database
- DisGeNET
- Description
- Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
- Pubmed
- 10360404
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.444885953697445
- Year of publication
- 1999
Drugs