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
- Apraxia, Developmental Verbal
- Source Database
- DisGeNET
- Description
- We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for DVD.
- Pubmed
- 11397328
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2000
Drugs