COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Deafness, Autosomal Dominant 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912947
rs121912947
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		0.800 GeneticVariation UNIPROT Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
dbSNP: rs121912947
rs121912947
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1866095
Disease:
Deafness, Autosomal Dominant 13 		A 0.800 CausalMutation CLINVAR