Annotation Detail
Information
- Associated Genes
- IDUA
- Associated Variants
-
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*)
(
ENST00000247933.9,
ENST00000514224.2,
ENST00000361661.6,
ENST00000398516.3,
ENST00000398520.6,
ENST00000622731.4 )
IDUA p.Pro533Arg (p.P533R) ( ENST00000247933.9, ENST00000514224.2 )
IDUA p.Pro533Arg (p.P533R) ( ENST00000247933.9, ENST00000514224.2 )
SLC26A1 c.*975G>A, IDUA p.Gln70Ter (p.Q70*) ( ENST00000247933.9, ENST00000514224.2, ENST00000361661.6, ENST00000398516.3, ENST00000398520.6, ENST00000622731.4 ) - Associated Disease
- Pfaundler-Hurler Syndrome
- Source Database
- DisGeNET
- Description
- alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
- Pubmed
- 1301941
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.452410381245573
- Year of publication
- 1992
Drugs