AMELY, amelogenin Y-linked, 266

N. diseases: 15; N. variants: 0
Disease: Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845053
Disease: Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 		0.200 Biomarker disease MGD A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. 20067920 2010
CUI: C1845053
Disease: Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 		0.200 Biomarker disease MGD Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. 11406633 2001