rs104894408, GJB2

N. diseases: 13
Disease: Senter syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation BEFREE We explored the effects of three mouse Cx26 mutants (Cx26-G12R, -G45E and -D50N) corresponding to KID syndrome-causative human mutants on hemichannel activities leading to cell death and the expression of immune response-associated genes. 30150638 2018
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation BEFREE These results indicated that GJB2 mutation (p.G12R) in this case of KID syndrome, which was susceptible to T. rubrum infection, might be attributed to a limited native immune response. 28635012 2017
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation BEFREE This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. 22011219 2012
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation BEFREE The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized. 19785089 2009
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation BEFREE Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. 15245427 2004
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation UNIPROT De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. 12548749 2003
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation UNIPROT Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. 12752120 2003
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation UNIPROT Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 11912510 2002
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 GeneticVariation CLINVAR
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.850 CausalMutation CLINVAR