DISEASES

Disease-gene associations mined from literature

Human genes for amelogenesis imperfecta

Amelogenesis imperfecta [DOID:2187]

Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel: ameloblastin, enamelin, tuftelin and amelogenin.

Synonyms:  amelogenesis imperfecta,  DOID:2187,  Amelogenesis imperfecta (disorder),  Amelogenesis imperfecta disorder,  Amelogenesis imperfecta

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9 #10 #11 #12