DISEASES

Disease-gene associations mined from literature

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Human genes for Bietti crystalline corneoretinal dystrophy

Bietti crystalline corneoretinal dystrophy [DOID:0050664]

A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.

Synonyms:  Bietti crystalline corneoretinal dystrophy,  Bietti crystalline corneoretinal dystrophies,  DOID:0050664,  Bietti's crystalline dystrophy,  Biettis crystalline dystrophy

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.