Comparative

OMIA group 1200

Tremor, high-frequency

The chain reaches the human disease dilated cardiomyopathy 1S, which Mondo defines as: “Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.” It reaches 3 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

    4 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

    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.

congenital myopathy 7A, myosin storage, autosomal dominant

62.5 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.80 28.0 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 2 naturally occurring species entries marked as a defect 7.0 of 10
MYH7-related skeletal myopathy

61.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.78 27.3 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 2 naturally occurring species entries marked as a defect 7.0 of 10
hypertrophic cardiomyopathy 1

61.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.76 26.5 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 2 naturally occurring species entries marked as a defect 7.0 of 10
dilated cardiomyopathy 1S

34.5 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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 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
macaques Macaca OMIA:001200-9539 Yes
pig Sus scrofa OMIA:001200-9823 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
macaques No gene OMIA records no gene for this species entry.
pig MYH7 myosin, heavy chain 7, cardiac muscle, beta NCBI Gene 396860 MYH7 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:0008409 congenital myopathy 7A, myosin storage, autosomal dominant OMIA's OMIM numbers
MONDO:0013262 dilated cardiomyopathy 1S Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. OMIA's OMIM numbers
MONDO:0008647 hypertrophic cardiomyopathy 1 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. OMIA's OMIM numbers
MONDO:0008050 MYH7-related skeletal myopathy A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement. 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
MYH7 congenital myopathy 7A, myosin storage, autosomal dominant 0.80 470 Genetic association 0.88 Genetic literature 0.86 Literature 0.13
MYH7 MYH7-related skeletal myopathy 0.78 444 Genetic literature 0.88 Genetic association 0.86 Literature 0.09
MYH7 hypertrophic cardiomyopathy 1 0.76 679 Genetic association 0.94 Genetic literature 0.86 Animal model 0.31

Drugs

Drugs act on MYH7, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Mavacamten MYH7 inhibitor Approved No
Omecamtiv Mecarbil MYH7 activator Approved No
Danicamtiv MYH7 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.