OMIA group 1553

Multifocal retinopathy 2

The chain reaches the human disease autosomal dominant vitreoretinochoroidopathy, which Mondo defines as: “Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.” It reaches 4 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.

Animal disease

Reached

OMIA records it in 1 species entry marked as a defect.
Human disease

Reached

5 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

4 Open Targets associations, with a best score of 0.85.
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.

vitelliform macular dystrophy 2

58.6 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.85	29.6 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	1 naturally occurring species entry marked as a defect	4.0 of 10

autosomal recessive bestrophinopathy

57.8 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.82	28.8 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	1 naturally occurring species entry marked as a defect	4.0 of 10

autosomal dominant vitreoretinochoroidopathy

56.4 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.78	27.4 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	1 naturally occurring species entry marked as a defect	4.0 of 10

retinitis pigmentosa 50

55.7 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.76	26.7 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	1 naturally occurring species entry marked as a defect	4.0 of 10

BEST1-related recessive retinopathy

29.0 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	1 naturally occurring species entry marked as a defect	4.0 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:001553-9615	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	BEST1 bestrophin 1 NCBI Gene 483791	BEST1 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: found a disease.
OMIA's OMIM numbers: found a disease.

The two routes found different diseases. OMIA's own link is broader: its disease is a parent of one the OMIM numbers found.

Mondo disease	Name	Found by
MONDO:0008662	autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.	OMIA's OMIM numbers
MONDO:0012733	autosomal recessive bestrophinopathy Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	OMIA's OMIM numbers
MONDO:0700239	BEST1-related recessive retinopathy Any retinopathy caused by bi-allelic variants in the BEST1 gene.	OMIA's own Mondo link
MONDO:0013175	retinitis pigmentosa 50 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.	OMIA's OMIM numbers
MONDO:0007931	vitelliform macular dystrophy 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	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
BEST1	vitelliform macular dystrophy 2	0.85	544	Genetic association 0.95 Genetic literature 0.72 Animal model 0.61 Literature 0.60
BEST1	autosomal recessive bestrophinopathy	0.82	249	Genetic association 0.91 Genetic literature 0.73 Animal model 0.59 Somatic mutation 0.57 Literature 0.46
BEST1	autosomal dominant vitreoretinochoroidopathy	0.78	140	Genetic association 0.87 Genetic literature 0.72 Animal model 0.53 Literature 0.41
BEST1	retinitis pigmentosa 50	0.76	42	Genetic association 0.89 Genetic literature 0.81 Animal model 0.64 Literature 0.05

Drugs

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