rs28931593, GJB2

N. diseases: 9
Disease: hearing impairment ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.020 GeneticVariation BEFREE Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma. 24975403 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.020 GeneticVariation BEFREE We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. 12372058 2002