Comparative

OMIA group 1772

Skeletal dysplasia 2, COL11A2-related

The chain reaches the human disease fibrochondrogenesis 2, which Mondo defines as: “Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.” 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 0.80.

  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.

otospondylomegaepiphyseal dysplasia, autosomal dominant

59.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 28.1 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 One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
otospondylomegaepiphyseal dysplasia, autosomal recessive

58.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.78 27.2 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 One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
fibrochondrogenesis 2

56.5 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.71 25.0 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 One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 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:001772-9615 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 COL11A2 collagen, type XI, alpha 2 NCBI Gene 481734 COL11A2 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:0013795 fibrochondrogenesis 2 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. OMIA's OMIM numbers
MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. OMIA's OMIM numbers
MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 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
COL11A2 otospondylomegaepiphyseal dysplasia, autosomal dominant 0.80 170 Genetic literature 0.86 Genetic association 0.82 Animal model 0.40 Literature 0.13
COL11A2 otospondylomegaepiphyseal dysplasia, autosomal recessive 0.78 230 Genetic association 0.86 Genetic literature 0.82 Animal model 0.40 Literature 0.07
COL11A2 fibrochondrogenesis 2 0.71 210 Genetic association 0.89 Genetic literature 0.78 Animal model 0.29 Literature 0.04

Drugs

Drugs act on COL11A2, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Collagenase Clostridium Histolyticum COL11A2 hydrolytic enzyme Approved No
Ocriplasmin COL11A2 hydrolytic enzyme Approved No

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