Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg408Trp (p.R408W)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Ala403Val (p.A403V) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Pro (p.R261P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ala403Val (p.A403V) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Pro (p.R261P) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg261Gln (p.R261Q) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (25.9%) and 21 as MHP (19.6%).
- Pubmed
- 22513348
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 2012
Drugs