rs28929485, GJB2

N. diseases: 7
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
0.810 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
0.810 GeneticVariation UNIPROT
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.810 CausalMutation CLINVAR
Keratitis
CUI: C0022568
Disease: Keratitis
0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
0.010 GeneticVariation BEFREE Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. 28569788 2017
Congenital ichthyosis
CUI: C0020758
Disease: Congenital ichthyosis
0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
Tongue Carcinoma
CUI: C0558353
Disease: Tongue Carcinoma
0.010 GeneticVariation BEFREE This study also suggests that patients with the p.Ser17Phe mutation may have a more severe phenotype and could be at higher risk for tongue carcinoma. 17381453 2007
Keratitis-Ichthyosis-Deafness Syndrome
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
0.010 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