Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION
GBA1 p.Glu365Lys (p.E365K) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Ser235Pro (p.S235P) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asn227Ser (p.N227S) ( ENST00000368373.8, ENST00000427500.7, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Arg87Trp (p.R87W) ( ENST00000327247.9, ENST00000428024.3, ENST00000427500.7, ENST00000368373.8 )
GBA1 p.Glu365Lys (p.E365K) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Ser235Pro (p.S235P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Asn227Ser (p.N227S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Arg87Trp (p.R87W) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type 1
- Source Database
- DisGeNET
- Description
- Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
- Pubmed
- 10796875
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.444885953697445
- Year of publication
- 2000
Drugs