GJC3, gap junction protein gamma 3, 349149

N. diseases: 2; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. 28367085 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. 19876648 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE In this article, we report variants of the Cx29 gene in 253 unrelated Taiwanese patients with nonsyndromic hearing loss. 19657183 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE Our results suggest the variants of GJC3, GJB4, and GJB3 may be the common genetic risk factor, after variants of GJB2, for the development of nonsyndromic HL in Taiwan. 20593197 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.050 GeneticVariation disease BEFREE From the study, we conclude that mutations in the Cx29 gene do not play a role in the causation of NSHI in Indian population. 20632892 2010
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 Biomarker phenotype BEFREE To investigate the association of eight connexin genes (GJB2, GJB4, GJA1P1, GJB6, GJB3, GJA1, GJB1, and GJC3) and the SLC26A4 gene with congenital hearing impairment among infants in a universal newborn hearing screening program. 25724631 2015