DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for amelogenesis imperfecta type 1C

Amelogenesis imperfecta type 1C [DOID:0110056]

An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).

Synonyms:  amelogenesis imperfecta type 1C,  DOID:0110056,  AI1C,  amelogenesis imperfecta type IC,  autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.