Annotation Detail

Information
Associated Genes
CAT
Associated Variants
CAT p.Asp389= (p.D389=) ( ENST00000241052.5 )
CAT p.Asp389= (p.D389=) ( ENST00000241052.5 )
Associated Disease
beta thalassemia
Source Database
DisGeNET
Description
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients.
Pubmed
22286031
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2012
Drugs