COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Deafness, Autosomal Recessive 53 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 GeneticVariation disease UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 Biomarker disease BEFREE In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. 16752389 2006
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 GeneticVariation disease UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 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: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 Biomarker disease GENOMICS_ENGLAND [SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA]. 14234962 1964
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 CausalMutation disease CLINVAR
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 Biomarker disease CTD_human
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1864746
Disease: Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 53 		0.710 GeneticVariation disease CLINVAR