DISEASES

Disease-gene associations mined from literature

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Human genes for amelogenesis imperfecta type 1E

Amelogenesis imperfecta type 1E [DOID:0110058]

An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).

Synonyms:  amelogenesis imperfecta type 1E,  DOID:0110058,  AIH1,  amelogenesis imperfecta hypomaturationtype with snow-capped teeth,  amelogenesis imperfecta type IE ...

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.