GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Mutilating keratoderma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation BEFREE Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. 20031451 2010
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation UNIPROT New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 18688874 2009
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation BEFREE Using fluorescent connexin fusion proteins, we show that the mutation induces a transport defect similar to that found for the Vohwinkel syndrome mutation p.Asp66His. 17993581 2008
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation UNIPROT Mutation analysis of the GJB2 (connexin 26) gene in Egypt. 15954104 2005
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation BEFREE A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 10369869 1999
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		0.830 GeneticVariation UNIPROT A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. 10369869 1999
dbSNP: rs104894403
rs104894403
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		G 0.830 CausalMutation CLINVAR
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007
dbSNP: rs80338942
rs80338942
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		C 0.700 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883 2000
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482 1997
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442 1997
dbSNP: rs80338939
rs80338939
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800 1997
dbSNP: rs104894396
rs104894396
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894398
rs104894398
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894408
rs104894408
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894413
rs104894413
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs111033293
rs111033293
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		C 0.700 CausalMutation CLINVAR
dbSNP: rs111033294
rs111033294
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		C 0.700 CausalMutation CLINVAR
dbSNP: rs111033299
rs111033299
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs371024165
rs371024165
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs72474224
rs72474224
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease:
Mutilating keratoderma 		T 0.700 GeneticVariation CLINVAR