Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Phe290Leu (p.F290L)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000428024.3,
ENST00000327247.9 )
GBA1 p.Phe252Leu (p.F252L) ( ENST00000427500.7, ENST00000368373.8, ENST00000327247.9, ENST00000428024.3 )
GBA1 p.Phe290Leu (p.F290L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
GBA1 p.Phe252Leu (p.F252L) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher disease
- Source Database
- DisGeNET
- Description
- A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino acid change F202L, was identified in patients with Gaucher disease in association with the common N370S mutation in GBA.
- Pubmed
- 15024629
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.354558160887576
- Year of publication
- 2004
Drugs