GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 Biomarker disease BEFREE The LOR and GJB2 genes are reported to be responsible for VS. 30565282 2019
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 Biomarker disease GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754 2019
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 Biomarker disease GENOMICS_ENGLAND Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. 24346921 2014
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. 23675785 2014
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GermlineCausalMutation disease ORPHANET D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome. 22960825 2013
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GermlineCausalMutation disease ORPHANET A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 20854437 2011
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 20854437 2011
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 Biomarker disease BEFREE The present case and experimental evidence that connexin 26 is related to animal epileptogenesis suggest that the phenotypic spectrum of VS could be expanded to include epileptic manifestations. 20031451 2010
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease UNIPROT Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome. 18688874 2009
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome. 18688874 2009
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome. 17993581 2008
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 CausalMutation disease CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 CausalMutation disease CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome. 17106596 2006
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease UNIPROT Mutation analysis of the GJB2 (connexin 26) gene in Egypt. 15954104 2005
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE A whole array of cutaneous syndromes is associated with distinct dominant mutations in GJB2 encoding the gap junction protein connexin 26 (C x 26), including Vohwinkel's syndrome and keratitis-ichthyosis-deafness syndrome. 16197390 2005
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 Biomarker disease GENOMICS_ENGLAND The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. 15482471 2004
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome. 15140211 2004
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 CausalMutation disease CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE The mutilating keratoderma associated with sensorineural hearing loss is thought to have an etiologic basis, resting on a mutation of the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26). 11174420 2001
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 CausalMutation disease CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883 2000
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 CausalMutation disease CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease UNIPROT We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described]. 10369869 1999
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma
0.800 GeneticVariation disease BEFREE We now report a Cx26 mutation in three families with mutilating keratoderma and deafness [Vohwinkel's syndrome (VS; MIM 124500), as originally described]. 10369869 1999