Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q)
(
ENST00000247933.9,
ENST00000514224.2,
ENST00000361661.6,
ENST00000398516.3,
ENST00000398520.6,
ENST00000622731.4 )
SLC26A1 c.*917C>T, IDUA p.Arg89Gln (p.R89Q) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 ) - Associated Disease
- mucopolysaccharidosis I
- Source Database
- DisGeNET
- Description
- The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
- Pubmed
- 14559116
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.152798316216588
- Year of publication
- 2003
Drugs