Comparative

OMIA group 175

Cerebellar abiotrophy

The chain reaches the human disease spinocerebellar ataxia type 5, which Mondo defines as: “Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.”

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 9 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Stopped here

    Open Targets links none of the group's human genes to any of its human diseases.

  5. Drugs

    Not reached

    The chain stopped before this step.

The chain stopped at Target evidence: Open Targets links none of the group's human genes to any of its human diseases.

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.

spinocerebellar ataxia type 5

35.0 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 9 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:000175-9615 Yes
domestic cat Felis catus OMIA:000175-9685 Yes
domestic cattle Bos taurus OMIA:000175-9913 Yes
goat Capra hircus OMIA:000175-9925 Yes
horse Equus caballus OMIA:000175-9796 Yes
koala Phascolarctos cinereus OMIA:000175-38626 Yes
Magellanic penguin Spheniscus magellanicus OMIA:000175-37081 Yes
pig Sus scrofa OMIA:000175-9823 Yes
sheep Ovis aries OMIA:000175-9940 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 No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
domestic cattle No gene OMIA records no gene for this species entry.
goat No gene OMIA records no gene for this species entry.
horse MUTYH mutY DNA glycosylase NCBI Gene 100052596 Ensembl does not know this NCBI Gene identifier.
horse TOE1 target of EGR1, member 1 (nuclear) NCBI Gene 100052538 TOE1 Ensembl one to one
koala No gene OMIA records no gene for this species entry.
Magellanic penguin No gene OMIA records no gene for this species entry.
pig No gene OMIA records no gene for this species entry.
sheep 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:0010848 spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. 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.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.