Comparative

OMIA group 1222

Leber congenital amaurosis

The chain reaches the human disease Leber congenital amaurosis 2, which Mondo defines as: “Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.” It reaches 2 more human diseases, 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.

  1. Animal disease

    Reached

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

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    2 human genes.

  4. Target evidence

    Reached

    4 Open Targets associations, with a best score of 0.82.

  5. Drugs

    Reached

    2 ChEMBL drugs, 1 approved. None 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 2

63.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.8 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
retinitis pigmentosa 87 with choroidal involvement

57.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.65 22.8 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
retinitis pigmentosa 20

34.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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:001222-9615 Yes
domestic cat Felis catus OMIA:001222-9685 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 RPE65 retinal pigment epithelium-specific protein 65kDa NCBI Gene 403803 RPE65 Ensembl one to one
domestic cat AIPL1 aryl hydrocarbon receptor interacting protein-like 1 NCBI Gene 101089053 AIPL1 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.

Mondo disease Name Found by
MONDO:0008765 Leber congenital amaurosis 2 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. OMIA's OMIM numbers
MONDO:0013425 retinitis pigmentosa 20 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. OMIA's OMIM numbers
MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement 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
RPE65 Leber congenital amaurosis 2 0.82 1,226 Genetic association 0.98 Animal model 0.61 Genetic literature 0.61 Literature 0.19
RPE65 retinitis pigmentosa 87 with choroidal involvement 0.65 73 Genetic association 0.91 Animal model 0.68 Genetic literature 0.61
AIPL1 retinitis pigmentosa 87 with choroidal involvement 0.07 7 Animal model 0.58
AIPL1 Leber congenital amaurosis 2 0.06 3 Animal model 0.52

Drugs

Drugs act on RPE65, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Voretigene Neparvovec RPE65 exogenous gene Approved No
Emixustat RPE65 inhibitor Phase 2/3 No

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