DISEASES

Disease-gene associations mined from literature

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Human genes for retinal arterial tortuosity

Retinal arterial tortuosity [DOID:0111547]

An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34.

Synonyms:  retinal arterial tortuosity,  DOID:0111547,  retinal arterial tortuosities,  RATOR,  retinal arteriolar tortuosity ...

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.