Comparative

OMIA group 2953

Cardiomyopathy, hypertrophic, MYH6-related

The chain reaches the human disease dilated cardiomyopathy 1EE, which Mondo defines as: “Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 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 1 species entry 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 0.74.

  5. Drugs

    Reached

    3 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.

dilated cardiomyopathy 1EE

33.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.74 25.8 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10
hypertrophic cardiomyopathy 14

30.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.65 22.8 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:002953-9823 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
pig LOC100736765 myosin-6 NCBI Gene 100736765 MYH6 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:0013198 dilated cardiomyopathy 1EE Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. OMIA's OMIM numbers
MONDO:0013197 hypertrophic cardiomyopathy 14 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 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
MYH6 dilated cardiomyopathy 1EE 0.74 306 Genetic association 0.85 Animal model 0.74 Genetic literature 0.73
MYH6 hypertrophic cardiomyopathy 14 0.65 2,271 Genetic literature 0.85 Genetic association 0.83 Animal model 0.73

Drugs

Drugs act on MYH6, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Mavacamten MYH6 inhibitor Approved No
Omecamtiv Mecarbil MYH6 activator Approved No
Danicamtiv MYH6 activator Phase 2/3 No

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