COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Deafness, Autosomal Recessive 53 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957 2015
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
dbSNP: rs121912952
rs121912952
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		T 0.800 CausalMutation CLINVAR
dbSNP: rs606231410
rs606231410
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		0.800 GeneticVariation UNIPROT
dbSNP: rs606231410
rs606231410
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		A 0.800 CausalMutation CLINVAR
dbSNP: rs864309523
rs864309523
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1562336726
rs1562336726
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1864746
Disease:
Deafness, Autosomal Recessive 53 		C 0.700 GeneticVariation CLINVAR