DISEASES

Disease-gene associations mined from literature

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Human genes for renal coloboma syndrome

Renal coloboma syndrome [DOID:0090006]

A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.

Synonyms:  renal coloboma syndrome,  DOID:0090006,  renal coloboma disease,  renal coloboma disorder,  renal coloboma syndromes ...

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.