DISEASES

Disease-gene associations mined from literature

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Human genes for Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1 [DOID:0110120]

An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.

Synonyms:  Axenfeld-Rieger syndrome type 1,  AxenfeldRieger syndrome type 1,  DOID:0110120,  RIEG1,  Rieger syndrome type 1

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.