Comparative

OMIA group 1887

Osteopetrosis with gingival hamartomas

The chain reaches the human disease autosomal dominant osteopetrosis 2, which Mondo defines as: “A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).” 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 1 species entry marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

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

  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.

autosomal dominant osteopetrosis 2

72.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.7 of 35
Drugs A drug has reached phase 2 for this disease 15.0 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 osteopetrosis 4

60.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.76 26.8 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 Both routes found this disease 10.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
hypopigmentation, organomegaly, and delayed myelination and development

51.8 out of 100

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

Species

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

Species Scientific name OMIA entry A defect
domestic cattle Bos taurus OMIA:001887-9913 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
domestic cattle CLCN7 chloride channel, voltage-sensitive 7 NCBI Gene 513545 CLCN7 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.

The two routes found some of the same diseases, but not all.

Mondo disease Name Found by
MONDO:0008156 autosomal dominant osteopetrosis 2 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). OMIA's OMIM numbers
MONDO:0012676 autosomal recessive osteopetrosis 4 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. Both routes
MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development 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
CLCN7 autosomal dominant osteopetrosis 2 0.82 93 Genetic association 0.91 Genetic literature 0.77 Animal model 0.51 Literature 0.14
CLCN7 autosomal recessive osteopetrosis 4 0.76 82 Genetic association 0.92 Genetic literature 0.82 Animal model 0.42 Literature 0.08
CLCN7 hypopigmentation, organomegaly, and delayed myelination and development 0.65 35 Genetic association 0.72 Genetic literature 0.69 Animal model 0.26 Literature 0.15

Drugs

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