Annotation Detail
Information
- Associated Genes
- IMPDH1
- Associated Variants
-
IMPDH1 p.Asp311Asn (p.D311N)
(
ENST00000338791.11,
ENST00000348127.11,
ENST00000354269.9,
ENST00000419067.6,
ENST00000470772.5,
ENST00000480861.5,
ENST00000496200.5 )
IMPDH1 p.Asp311Asn (p.D311N) ( ENST00000338791.11, ENST00000348127.11, ENST00000354269.9, ENST00000419067.6, ENST00000470772.5, ENST00000480861.5, ENST00000496200.5 ) - Associated Disease
- Autosomal dominant retinitis pigmentosa
- Source Database
- DisGeNET
- Description
- Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
- Pubmed
- 16214101
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2005
Drugs