COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Deafness, Autosomal Dominant 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease BEFREE Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. 27142990 2016
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease 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
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 GeneticVariation disease CLINVAR A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 15372529 2004
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease 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
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease MGD Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). 11668593 2001
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 GeneticVariation disease UNIPROT Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease MGD Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease 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
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease GENOMICS_ENGLAND [SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA]. 14234962 1964
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease GENOMICS_ENGLAND
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 CausalMutation disease CLINVAR
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 13 		0.930 Biomarker disease CTD_human