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
- Classical galactosemia
- Source Database
- DisGeNET
- Description
- The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations.
- Pubmed
- 22963887
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.375200744836497
- Year of publication
- 2012
Drugs