Annotation Detail
Information
- Associated Genes
- GALT
- Associated Variants
-
GALT p.Gln188Arg (p.Q188R)
(
ENST00000378842.8,
ENST00000450095.6 )
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Gln188Arg (p.Q188R) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Lys285Asn (p.K285N) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 ) - Associated Disease
- Presenile cataract
- Source Database
- DisGeNET
- Description
- A study was undertaken to determine the prevalence of the three most common mutations in the GALT gene (Q188R, K285N and N314D, including its variant Duarte-2) in a group of Slovenian patients with idiopathic presenile cataract.
- Pubmed
- 14707519
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2003
Drugs