Annotation Detail

Information
Associated Genes
APEX1
Associated Variants
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
Associated Disease
Meningitis, Bacterial
Source Database
DisGeNET
Description
In recent papers published by our group, we described the associations between the single nucleotide polymorphisms (SNPs) AADAT +401C > T, APEX1 Asn148Glu, OGG1 Ser326Cys and PARP1 Val762Ala and BM.
Pubmed
26316174
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs