Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Gln188Arg (p.Q188R)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Gln188Arg (p.Q188R) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene.
- Pubmed
- 9222760
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 1997
Drugs