Annotation Detail

Information
Associated Genes
MMP3
Associated Variants
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
COL5A1 c.*267C>T ( ENST00000371817.8, ENST00000371820.4 )
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
COL5A1 c.*267C>T ( ENST00000371817.8, ENST00000371820.4 )
Associated Disease
Tendinopathy
Source Database
DisGeNET
Description
Furthermore, the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy.
Pubmed
19042922
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2009
Drugs