DISEASES

Disease-gene associations mined from literature

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Human genes for pigmented paravenous chorioretinal atrophy

Pigmented paravenous chorioretinal atrophy [DOID:0111541]

An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3.

Synonyms:  pigmented paravenous chorioretinal atrophy,  DOID:0111541,  pigmented paravenous chorioretinal atrophies,  PPRCA,  PPRCAs

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.