Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Asn314Asp (p.N314D)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Galactosemias
- Source Database
- DisGeNET
- Description
- Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carriers for the N314D mutation of GALT associated with the Duarte variant of galactosaemia as compared to 16 out of 113 general population controls (14%) who possessed at least one N314D allele.
- Pubmed
- 9238673
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.153061164698656
- Year of publication
- 1996
Drugs