Comparative

OMIA group 31

Coat colour, dilution, MLPH-related

The chain reaches the human disease Griscelli syndrome type 3, which Mondo defines as: “A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.”

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

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.69.

  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.

Griscelli syndrome type 3

58.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.69 24.2 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

Species

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

Species Scientific name OMIA entry A defect
American mink Neogale vison OMIA:000031-452646 No, not counted
dog Canis lupus familiaris OMIA:000031-9615 Yes
domestic cat Felis catus OMIA:000031-9685 No, not counted
domestic cattle Bos taurus OMIA:000031-9913 No, not counted
domestic ferret Mustela putorius furo OMIA:000031-9669 No, not counted
rabbit Oryctolagus cuniculus OMIA:000031-9986 No, not counted
sheep Ovis aries OMIA:000031-9940 No, not counted

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 MLPH melanophilin NCBI Gene 607077 MLPH Ensembl one to one
American mink Not a defect, not counted MLPH NCBI Gene 122902450 Ensembl does not know this NCBI Gene identifier.
domestic cat Not a defect, not counted MLPH melanophilin NCBI Gene 780791 MLPH Ensembl one to one
domestic cattle Not a defect, not counted MLPH melanophilin NCBI Gene 531343 MLPH Ensembl one to one
domestic ferret Not a defect, not counted MLPH melanophilin NCBI Gene 101679226 MLPH Ensembl one to one
rabbit Not a defect, not counted MLPH melanophilin NCBI Gene 100343360 Ensembl does not know this NCBI Gene identifier.
sheep Not a defect, not counted MLPH melanophilin NCBI Gene 100272215 MLPH 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:0012220 Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. 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
MLPH Griscelli syndrome type 3 0.69 45 Genetic association 0.79 Genetic literature 0.57 Animal model 0.46 Literature 0.05

Drugs

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