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: rs28931594
rs28931594
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
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