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
- Galactosemias
- Source Database
- DisGeNET
- Description
- Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers.
- Pubmed
- 15689161
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.153061164698656
- Year of publication
- 2005
Drugs