Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GermlineCausalMutation disease ORPHANET
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 Biomarker disease MGD
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 Biomarker disease CTD_human
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. 15823911 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE KID syndrome is mostly related to mutations of GJB2 gene encoding connexin-26. 20412116 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation. 16885744 2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. 18412859 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 20230788 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. 20307501 2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. 27141831 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. 30287322 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 Biomarker disease BEFREE A 14-year-old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. 1951425 1991
Entrez Id: 363
Gene Symbol: AQP6
AQP6 		0.010 Biomarker disease BEFREE A 14-year-old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. 1951425 1991
Entrez Id: 3835
Gene Symbol: KIF22
KIF22 		0.010 Biomarker disease BEFREE A 14-year-old girl with ichthyosis and severe liver disease is compared to 35 reported cases of KID or Senter syndrome. 1951425 1991
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. 22011219 2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. 18024254 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26) hemichannels produce aberrant channel activity, which gives rise to deafness and skin disorders, including keratitis-ichthyosis-deafness (KID) syndrome. 30530766 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 CausalMutation disease CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 Biomarker disease GENOMICS_ENGLAND A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. 15337980 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 GeneticVariation disease BEFREE A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 18950394 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 AlteredExpression disease BEFREE Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. 25625422 2015
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.320 Biomarker disease BEFREE Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. 25625422 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 CausalMutation disease CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		1.000 CausalMutation disease CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064 2007