DISEASES

Disease-gene associations mined from literature

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Human genes for amelogenesis imperfecta type 1A

Amelogenesis imperfecta type 1A [DOID:0110054]

An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

Synonyms:  amelogenesis imperfecta type 1A,  DOID:0110054,  AI1A,  amelogenesis imperfecta hypoplastic type IA,  amelogenesis imperfecta type IA ...

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.