Comparative

OMIA group 2105

Neuroaxonal dystrophy, PLA2G6-related

The chain reaches the human disease autosomal recessive Parkinson disease 14, which Mondo defines as: “A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.” 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 2 species entries 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 0.86.

  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.

neurodegeneration with brain iron accumulation 2A

79.5 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.86 30.0 of 35
Drugs A drug has reached phase 2/3 for this disease 17.5 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10
autosomal recessive Parkinson disease 14

60.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.6 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 One route found this disease 5.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10
neurodegeneration with brain iron accumulation 2B

57.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.73 25.7 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 2 naturally occurring species entries marked as a defect 7.0 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:002105-9615 Yes
sheep Ovis aries OMIA:002105-9940 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 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) NCBI Gene 481256 PLA2G6 Ensembl one to one
sheep PLA2G6 phospholipase A2 group VI NCBI Gene 101103799 PLA2G6 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:0013060 autosomal recessive Parkinson disease 14 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. OMIA's OMIM numbers
MONDO:0024457 neurodegeneration with brain iron accumulation 2A OMIA's OMIM numbers
MONDO:0012444 neurodegeneration with brain iron accumulation 2B 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
PLA2G6 neurodegeneration with brain iron accumulation 2A 0.86 1,185 Genetic association 0.91 Genetic literature 0.91 Literature 0.62 Animal model 0.44
PLA2G6 autosomal recessive Parkinson disease 14 0.82 151 Genetic literature 0.89 Genetic association 0.88 Animal model 0.40 Literature 0.10
PLA2G6 neurodegeneration with brain iron accumulation 2B 0.73 192 Genetic literature 0.96 Genetic association 0.94 Animal model 0.43 Literature 0.13

Drugs

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