| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.780 | GeneticVariation | BEFREE | GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. | 30287322 | 2019 |
||||
|
0.780 | 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 |
||||
|
0.780 | GeneticVariation | BEFREE | Furthermore, we used freshly isolated transgenic keratinocytes to show that micromolar concentrations of MFQ attenuated increased macroscopic membrane currents in primary mouse keratinocytes expressing human Cx26-G45E, a mutation that causes a lethal form of KID syndrome. | 25229253 | 2015 |
||||
|
0.780 | GeneticVariation | BEFREE | Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. | 23756814 | 2013 |
||||
|
0.780 | GeneticVariation | BEFREE | Here, we examined two such mutations, A40V and G45E, which are positioned near the TM1/E1 boundary and are associated with keratitis ichthyosis deafness (KID) syndrome. | 20584891 | 2010 |
||||
|
0.780 | GeneticVariation | BEFREE | We here report the first pre-natal molecular genetic diagnosis of the lethal form of KID syndrome relating to a G45E mutation. | 20412116 | 2010 |
||||
|
0.780 | GeneticVariation | BEFREE | A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. | 18024254 | 2008 |
||||
|
0.780 | GeneticVariation | BEFREE | The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. | 16885744 | 2006 |
||||
|
T | 0.780 | CausalMutation | CLINVAR |