Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ile65Ser (p.I65S)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Ile65Thr (p.I65T) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Asn (p.I65N) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Ser (p.I65S) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Thr (p.I65T) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Asn (p.I65N) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes.
- Pubmed
- 12501224
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 2002
Drugs