Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.300 Biomarker GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017