DISEASES

Disease-gene associations mined from literature

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Human genes for amelogenesis imperfecta type 1B

Amelogenesis imperfecta type 1B [DOID:0110052]

An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.

Synonyms:  amelogenesis imperfecta type 1B,  DOID:0110052,  AI1B,  AIH2,  amelogenesis imperfecta type IB ...

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.