Comparative

OMIA group 1415

Hyperkeratosis, epidermolytic

The chain reaches the human disease ichthyosis, annular epidermolytic 1, which Mondo defines as: “Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 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

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.73.

  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.

congenital reticular ichthyosiform erythroderma

57.5 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.73 25.5 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 7.0 of 10
ichthyosis, annular epidermolytic 1

54.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.65 22.7 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 7.0 of 10
epidermolytic hyperkeratosis 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 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:001415-9615 Yes
walrus Odobenus rosmarus OMIA:001415-9707 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 KRT10 keratin 10, type I NCBI Gene 491006 KRT10 Ensembl one to one
walrus No gene OMIA records no gene for this species entry.

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:0012208 congenital reticular ichthyosiform erythroderma OMIA's OMIM numbers
MONDO:0700249 epidermolytic hyperkeratosis 1 OMIA's OMIM numbers
MONDO:0100303 ichthyosis, annular epidermolytic 1 Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 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
KRT10 congenital reticular ichthyosiform erythroderma 0.73 48 Genetic association 0.82 Genetic literature 0.81 Animal model 0.49 Literature 0.18
KRT10 ichthyosis, annular epidermolytic 1 0.65 16 Animal model 0.76 Genetic association 0.74 Genetic literature 0.73

Drugs

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