AMBN, ameloblastin, 258

N. diseases: 23; N. variants: 1
Disease: Amelogenesis imperfecta local hypoplastic form ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.320 GeneticVariation disease BEFREE We characterized a family with hypoplastic amelogenesis imperfecta caused by AMBN compound heterozygous mutations (c.1061T>C; p.Leu354Pro/ c.1340C>T; p.Pro447Leu). 31402633 2019
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.320 GermlineCausalMutation disease ORPHANET Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. 24858907 2014
CUI: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		0.320 Biomarker disease BEFREE Ameloblastin protein is located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel, and the AMBN gene therefore represents a viable candidate gene for local hypoplastic amelogenesis imperfecta (AI). 11330937 2001