COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.320 Biomarker phenotype BEFREE Evaluation of hearing impairment as a feature of the nonocular Stickler syndrome (type II) linked to COL11A2. 10718438 2000
CUI: C1384666
Disease: hearing impairment
hearing impairment 		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