Comparative

OMIA group 214

Coat colour, white spotting

The chain reaches the human disease Tietz syndrome, which Mondo defines as: “Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.” It reaches 1 more human disease, 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

    2 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.80.

  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.

Waardenburg syndrome type 2A

57.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 28.1 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
Tietz syndrome

56.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.77 27.0 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:000214-9615 No, not counted
domestic cat Felis catus OMIA:000214-9685 No, not counted
domestic cattle Bos taurus OMIA:000214-9913 No, not counted
domestic guinea pig Cavia porcellus OMIA:000214-10141 No, not counted
horse Equus caballus OMIA:000214-9796 Yes
llama Lama glama OMIA:000214-9844 No, not counted
water buffalo Bubalus bubalis OMIA:000214-89462 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
horse MITF microphthalmia-associated transcription factor NCBI Gene 100033918 MITF Ensembl one to one
dog Not a defect, not counted MITF microphthalmia-associated transcription factor NCBI Gene 415126 MITF Ensembl one to one
domestic cat Not a defect, not counted No gene OMIA records no gene for this species entry.
domestic cattle Not a defect, not counted MITF microphthalmia-associated transcription factor NCBI Gene 407219 MITF Ensembl one to one
domestic cattle Not a defect, not counted PAX3 paired box 3 NCBI Gene 540951 PAX3 Ensembl one to one
domestic guinea pig Not a defect, not counted No gene OMIA records no gene for this species entry.
llama Not a defect, not counted No gene OMIA records no gene for this species entry.
water buffalo Not a defect, not counted MITF microphthalmia-associated transcription factor NCBI Gene 102399004 Ensembl has no gene cross-references for this species.

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:0007077 Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. OMIA's OMIM numbers
MONDO:0008671 Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF 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
MITF Waardenburg syndrome type 2A 0.80 1,154 Genetic association 0.93 Genetic literature 0.80 Animal model 0.64 Literature 0.17
MITF Tietz syndrome 0.77 1,135 Genetic association 0.84 Animal model 0.81 Genetic literature 0.72 Literature 0.13

Drugs

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