Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker BEFREE Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. 27142990

2016
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker BEFREE Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. 24378291

2015
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker BEFREE Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A). 12324385

2002