Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
0.320 GeneticVariation phenotype BEFREE Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). 23110709 2012
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
0.320 Biomarker phenotype BEFREE Evaluation of hearing impairment as a feature of the nonocular Stickler syndrome (type II) linked to COL11A2. 10718438 2000
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
0.320 Biomarker phenotype GENOMICS_ENGLAND Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). 9805126 1998