GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Keratitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022568
Disease:
Keratitis 		0.030 GeneticVariation BEFREE Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. 23756814 2013
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022568
Disease:
Keratitis 		0.030 GeneticVariation BEFREE Here, we examined two such mutations, A40V and G45E, which are positioned near the TM1/E1 boundary and are associated with keratitis ichthyosis deafness (KID) syndrome. 20584891 2010
dbSNP: rs72561723
rs72561723
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022568
Disease:
Keratitis 		0.030 GeneticVariation BEFREE A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. 18024254 2008