rs104894402, GJB2

N. diseases: 5
Disease: Palmoplantar Keratoderma with Deafness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581 2008
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214 2005
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 12372058 2002
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. 10757647 2000
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 GeneticVariation UNIPROT Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479 1998