Comparative

Human gene

CEP290 centrosomal protein 290kDa

ENSG00000198707 on Ensembl

1 disease group in OMIA reaches this gene, through the animal gene that Ensembl gives as its ortholog. The page shows the chain. It does not say whether an animal is a model of a human disease.

Animal diseases

By each group's best natural-model score, highest first. How the score works.

OMIA group Name Species Animal gene Ortholog The chain reached Best score
1244 Retinal degeneration II domestic cat CEP290 one to one Drug 77.9
for Leber congenital amaurosis 10

Target evidence

Each Open Targets association between this gene and a human disease that a disease group reached.

Human disease Mondo Score Evidence
Leber congenital amaurosis 10 MONDO:0012723 0.81 944
Senior-Loken syndrome 6 MONDO:0012433 0.81 864

Drugs

Each ChEMBL drug that acts on this gene.

Drug How Latest stage
Sepofarsen positive modulator Approved

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.