DISEASES

Disease-gene associations mined from literature

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Human genes for Bothnia retinal dystrophy

Bothnia retinal dystrophy [DOID:0050683]

A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.

Synonyms:  Bothnia retinal dystrophy,  Bothnia retinal dystrophies,  DOID:0050683,  Vasterbotten dystrophy,  Vasterbotten dystrophies

Linkouts:  OMIM

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.