COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 CausalMutation disease CLINVAR Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy. 19486694 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype. 15141750 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.400 Biomarker disease CLINGEN Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999