DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Newfoundland cone-rod dystrophy

Newfoundland cone-rod dystrophy [DOID:0111015]

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.

Synonyms:  Newfoundland cone-rod dystrophy,  DOID:0111015,  Newfoundland conerod dystrophy,  Newfoundland cone-rod dystrophies,  NFRCD ...

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.