Comparative

OMIA group 1821

Coat colour, albinism, oculocutaneous type IV

The chain reaches the human disease oculocutaneous albinism type 4, which Mondo defines as: “Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.”

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 4 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    2 human genes.

  4. Target evidence

    Reached

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

  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.

oculocutaneous albinism type 4

69.6 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 Both routes found this disease 10.0 of 10
Species 4 naturally occurring species entries marked as a defect 10.0 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:001821-9615 Yes
domestic cattle Bos taurus OMIA:001821-9913 Yes
donkey Equus asinus OMIA:001821-9793 Unknown, not counted
Japanese medaka Oryzias latipes OMIA:001821-8090 Yes
sheep Ovis aries OMIA:001821-9940 No, not counted
western gorilla Gorilla gorilla OMIA:001821-9593 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 SLC45A2 solute carrier family 45, member 2 NCBI Gene 489236 SLC45A2 Ensembl one to one
domestic cattle SLC45A2 solute carrier family 45 member 2 NCBI Gene 538746 AMACR Ensembl one to one
Japanese medaka slc45a2 solute carrier family 45, member 2 NCBI Gene 100049347 SLC45A2 Ensembl one to one
western gorilla SLC45A2 solute carrier family 45, member 2 NCBI Gene 101150212 Ensembl has no gene cross-references for this species.
donkey Not a defect, not counted SLC45A2 solute carrier family 45 member 2 NCBI Gene 106824735 SLC45A2 Ensembl one to one
sheep Not a defect, not counted SLC45A2 solute carrier family 45 member 2 NCBI Gene 101113792 SLC45A2 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:0011683 oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Both routes

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
SLC45A2 oculocutaneous albinism type 4 0.85 244 Genetic association 0.94 Genetic literature 0.85 Animal model 0.64 Literature 0.20
AMACR oculocutaneous albinism type 4 0.01 2 Literature 0.06

Drugs

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