Annotation Detail

Information
Associated Genes
ADA
Associated Variants
ADA MUTATION
ADA MUTATION
Associated Disease
severe combined immunodeficiency
Source Database
DisGeNET
Description
ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymphocyte development and function leading to severe combined immunodeficiency (SCID).
Pubmed
25875700
Section of the abstract supporting the evidence
PURPOSE
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CLINVAR,GAD
DisGENET score for the Gene Disease association
0.151954196035355
Drugs