rs28931594, GJB2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital deafness
CUI: C0339789
Disease: Congenital deafness
0.010 GeneticVariation BEFREE We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness. 26810281 2016
Keratitis
CUI: C0022568
Disease: Keratitis
0.010 GeneticVariation BEFREE Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. 23924173 2013
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
0.010 GeneticVariation BEFREE Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. 19793313 2009
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
0.010 GeneticVariation BEFREE This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss. 18412859 2008