GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Palmoplantar Keratoderma with Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581 2008
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214 2005
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 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: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 12372058 2002
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. 10757647 2000
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		0.800 GeneticVariation UNIPROT Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479 1998
dbSNP: rs121912968
rs121912968
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease:
Palmoplantar Keratoderma with Deafness 		C 0.800 CausalMutation CLINVAR