Comparative

OMIA group 2453

Waardenburg syndrome, SOX10-related

The chain reaches the human disease PCWH syndrome, which Mondo defines as: “A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.” 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 0.81.

  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.

PCWH syndrome

33.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.81 28.4 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10
Waardenburg syndrome type 2E

32.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 27.9 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10
Waardenburg syndrome type 4C

31.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.76 26.6 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10

Species

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

Species Scientific name OMIA entry A defect
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:002453-9823 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
pig SOX10 SRY (sex determining region Y)-box 10 NCBI Gene 414903 SOX10 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:0012198 PCWH syndrome A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. OMIA's OMIM numbers
MONDO:0012698 Waardenburg syndrome type 2E Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. OMIA's OMIM numbers
MONDO:0013202 Waardenburg syndrome type 4C A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. 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
SOX10 PCWH syndrome 0.81 120 Genetic association 0.86 Genetic literature 0.85 Animal model 0.39 Literature 0.19
SOX10 Waardenburg syndrome type 2E 0.80 78 Genetic association 0.89 Genetic literature 0.84 Animal model 0.25 Literature 0.03
SOX10 Waardenburg syndrome type 4C 0.76 140 Genetic association 0.91 Genetic literature 0.89 Literature 0.09

Drugs

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