Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
IDUA p.Gly409Arg (p.G409R)
(
ENST00000247933.9,
ENST00000514224.2 )
IDUA p.Gly409Arg (p.G409R) ( ENST00000247933.9, ENST00000514224.2 ) - Associated Disease
- Pfaundler-Hurler Syndrome
- Source Database
- DisGeNET
- Description
- Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
- Pubmed
- 8328452
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.452410381245573
- Year of publication
- 1993
Drugs