GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Sensorineural hearing loss, bilateral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 GeneticVariation disease BEFREE p.R143Q mutation in GJB2 can cause mild to profound bilateral sensorineural hearing impairment. 22991996 2013
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 GeneticVariation disease BEFREE A de novo GJB2 p.R184Q mutation can cause severe-to-profound bilateral sensorineural hearing impairment. 21868108 2011
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 GeneticVariation disease BEFREE The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. 20230788 2010
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 GeneticVariation disease BEFREE Biallelic pathogenic GJB2 gene mutations cause pre-lingual genetic hearing loss in up to 50% of individuals with bilateral sensorineural hearing loss worldwide. 16650079 2006
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 CausalMutation disease CLINVAR
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.340 Biomarker disease MGD