Annotation Detail

Information
Associated Genes
ATN1
Associated Variants
ATN1 MUTATION
ATN1 MUTATION
Associated Disease
severe combined immunodeficiency
Source Database
DisGeNET
Description
Human CD34(+) human cord blood cells were transduced with an FV vector encoding a methylguanine methyltransferase (MGMT)P140K transgene, transplanted into immunodeficient NOD/SCID IL2Rγ(null) mice, and selected in vivo for gene-modified cells.
Pubmed
25786870
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0507596300790167
Drugs