Comparative

OMIA group 2295

classical Ehlers-Danlos syndrome (cEDS), COL5A2-related

The chain reaches the human disease Ehlers-Danlos syndrome, classic type, 2, which Mondo defines as: “Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.”

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

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.74.

  5. Drugs

    Reached

    2 ChEMBL drugs, 2 approved. None has been tested for this disease.

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.

Ehlers-Danlos syndrome, classic type, 2

65.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.74 25.9 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 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:002295-9615 Yes
domestic cattle Bos taurus OMIA:002295-9913 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 COL5A2 collagen, type V, alpha 2 NCBI Gene 478836 COL5A2 Ensembl one to one
domestic cattle COL5A2 collagen type V alpha 2 NCBI Gene 538590 COL5A2 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:0019568 Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. Both routes

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
COL5A2 Ehlers-Danlos syndrome, classic type, 2 0.74 241 Genetic association 0.88 Genetic literature 0.67 Animal model 0.27

Drugs

Drugs act on COL5A2, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Collagenase Clostridium Histolyticum COL5A2 hydrolytic enzyme Approved No
Ocriplasmin COL5A2 hydrolytic enzyme Approved No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.