Annotation Detail

Information
Associated Genes
AMPD1
Associated Variants
AMPD1 MUTATION
AMPD1 MUTATION
Associated Disease
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
UNIPROT
DisGENET score for the Gene Disease association
0.12
Drugs