Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Ser135Trp (p.S135W)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Trp (p.S135W) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Ser135Leu (p.S135L) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- Whereas classic galactosemia has been hypothesized to result from GALT misfolding, a thorough functional-structural characterization of GALT most prevalent variants was still lacking, hampering the development of alternative therapeutic approaches.
- Pubmed
- 25614870
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 2014
Drugs