COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242362
Disease: Disk, Herniated
Disk, Herniated
0.010 GeneticVariation disease BEFREE An allelic variation of the COL9A2 gene encoding the alpha(2)-chain of collagen IX has recently been identified as a genetic risk factor for intervertebral disc prolapse, resulting in a tryptophane (Trp) substitution at position 326 of the protein. 11118298 2000