Annotation Detail
Information
- Associated Genes
- COL5A1
- Associated Variants
-
COL5A1 c.*267C>T
(
ENST00000371817.8,
ENST00000371820.4 )
COL5A1 c.*267C>T ( ENST00000371817.8, ENST00000371820.4 ) - Associated Disease
- Disorder of Achilles tendon
- Source Database
- DisGeNET
- Description
- [Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.]
- Pubmed
- 19042922
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.00508145069940506
- Year of publication
- 2009
Drugs