Comparative

OMIA group 1346

Retinal atrophy, progressive, autosomal dominant, RHO-related

The chain reaches the human disease congenital stationary night blindness autosomal dominant 1, which Mondo defines as: “Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO 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 3 species entries marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.53.

  5. Drugs

    Stopped here

    No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

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.

fundus albipunctatus

50.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.53 18.7 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 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. 1 genetically engineered entry is not counted 7.0 of 10
congenital stationary night blindness autosomal dominant 1

32.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 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. 1 genetically engineered entry is not counted 7.0 of 10
retinitis pigmentosa 4

32.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 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. 1 genetically engineered entry is not counted 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
crab-eating macaque Macaca fascicularis OMIA:001346-9541 Yes
dog Canis lupus familiaris OMIA:001346-9615 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:001346-9823 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
crab-eating macaque No gene OMIA records no gene for this species entry.
dog RHO rhodopsin NCBI Gene 493763 RHO Ensembl one to one
pig RHO rhodopsin NCBI Gene 397437 RHO 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:0012498 congenital stationary night blindness autosomal dominant 1 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. OMIA's OMIM numbers
MONDO:0007639 fundus albipunctatus Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. OMIA's OMIM numbers
MONDO:0013395 retinitis pigmentosa 4 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO 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
RHO fundus albipunctatus 0.53 50 Genetic association 0.84 Animal model 0.68 Literature 0.03

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.