Annotation Detail

Information
Associated Genes
IGFBP3
Associated Variants
ENSG00000284779 c.*1178A>G ( ENST00000416167.7, ENST00000381395.5, ENST00000695541.1, ENST00000381406.8 )
ENSG00000284779 c.*1178A>C ( ENST00000381406.8, ENST00000416167.7, ENST00000381395.5, ENST00000695541.1 )
ENSG00000284779 c.*47-285G>C, IGF2 c.163-285G>C ( ENST00000434045.6, ENST00000695541.1, ENST00000381389.5, ENST00000416167.7, ENST00000381395.5, ENST00000381406.8, ENST00000381392.5, ENST00000481781.3, ENST00000418738.2 )
INS-IGF2 c.188-2872A>C ( ENST00000397270.1, ENST00000481781.3 )
rs2132570
ENSG00000284779 c.*1178A>G ( ENST00000381395.5, ENST00000381406.8, ENST00000416167.7, ENST00000695541.1 )
ENSG00000284779 c.*1178A>C ( ENST00000381395.5, ENST00000381406.8, ENST00000416167.7, ENST00000695541.1 )
ENSG00000284779 c.*47-285G>C, IGF2 c.163-285G>C ( ENST00000381389.5, ENST00000381392.5, ENST00000381395.5, ENST00000381406.8, ENST00000416167.7, ENST00000418738.2, ENST00000434045.6, ENST00000481781.3, ENST00000695541.1 )
INS-IGF2 c.188-2872A>C ( ENST00000481781.3, ENST00000397270.1 )
rs2132570
Associated Disease
Muscle damage
Source Database
DisGeNET
Description
The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (ApaI, G17200A, rs680), IGF-II antisense (IGF2AS) (G11711T, rs7924316), and IGFBP-3 (-C1592A, rs2132570) were significantly associated with muscle damage indicators.
Pubmed
17289909
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2007
Drugs