OMIA group 1244

Retinal degeneration II

The chain reaches the human disease Leber congenital amaurosis 10, which Mondo defines as: “Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.” It reaches 1 more human disease, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 2 species entries marked as a defect.
Human disease

Reached

2 Mondo diseases.
Human gene

Reached

3 human genes.
Target evidence

Reached

4 Open Targets associations, with a best score of 0.81.
Drugs

Reached

1 ChEMBL drug, 1 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

Leber congenital amaurosis 10

77.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.81	28.4 of 35
Drugs	A drug has reached phase 2/3 for this disease	17.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	2 naturally occurring species entries marked as a defect	7.0 of 10

Senior-Loken syndrome 6

62.8 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.81	28.3 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	2 naturally occurring species entries marked as a defect	7.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog	Canis lupus familiaris	OMIA:001244-9615	Yes
domestic cat	Felis catus	OMIA:001244-9685	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 NCBI Gene 403511	GNB3 Ensembl	one to one
dog	PRPH2 peripherin 2 (retinal degeneration, slow) NCBI Gene 403972	PRPH2 Ensembl	one to one
domestic cat	CEP290 centrosomal protein 290kDa NCBI Gene 100113471	CEP290 Ensembl	one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0012723	Leber congenital amaurosis 10 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.	OMIA's OMIM numbers
MONDO:0012433	Senior-Loken syndrome 6 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
CEP290	Leber congenital amaurosis 10	0.81	944	Genetic association 0.92 Genetic literature 0.88 Animal model 0.52 Known drug 0.30 Literature 0.11
CEP290	Senior-Loken syndrome 6	0.81	864	Genetic association 0.91 Genetic literature 0.89 Animal model 0.57
PRPH2	Senior-Loken syndrome 6	0.08	15	Animal model 0.67
PRPH2	Leber congenital amaurosis 10	0.06	2	Animal model 0.47

Drugs

A drug acts on CEP290 and has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Sepofarsen	CEP290	positive modulator	Approved	Phase 2/3 for Leber congenital amaurosis 10

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