rs28929485, GJB2

N. diseases: 7
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
0.810 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