Disease: Amelogenesis Imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.120 GeneticVariation disease BEFREE Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis. 27558265 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.120 GeneticVariation disease BEFREE Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26. 22901946 2012
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.120 Biomarker disease HPO