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