DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [DOID:0110059]

An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.

Synonyms:  X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2,  DOID:0110059,  Xlinked amelogenesis imperfecta hypoplastic/hypomaturation 2,  AIH3,  amelogenesis imperfecta 3 hypoplastic type ...

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.