Comparative

OMIA group 690

Myoclonus epilepsy of Lafora

The chain reaches the human disease myoclonic epilepsy of Lafora 1, which Mondo defines as: “Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.” 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 5 species entries 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 0.77.

  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.

myoclonic epilepsy of Lafora 2

61.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.77 26.8 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 5 naturally occurring species entries marked as a defect 10.0 of 10
myoclonic epilepsy of Lafora 1

58.5 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.67 23.5 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 5 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:000690-9615 Yes
domestic cat Felis catus OMIA:000690-9685 Yes
domestic cattle Bos taurus OMIA:000690-9913 Yes
Eurasian elk Alces alces OMIA:000690-9852 Yes
fennec fox Vulpes zerda OMIA:000690-68732 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 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 NCBI Gene 474161 NHLRC1 Ensembl one to one
domestic cat No gene OMIA records no gene for this species entry.
domestic cattle No gene OMIA records no gene for this species entry.
Eurasian elk No gene OMIA records no gene for this species entry.
fennec fox 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:0958199 myoclonic epilepsy of Lafora 1 Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene. OMIA's OMIM numbers
MONDO:0800306 myoclonic epilepsy of Lafora 2 Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 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
NHLRC1 myoclonic epilepsy of Lafora 2 0.77 40 Genetic association 0.95 Genetic literature 0.61 Animal model 0.57
NHLRC1 myoclonic epilepsy of Lafora 1 0.67 18 Genetic literature 0.93 Genetic association 0.66 Animal model 0.39

Drugs

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