Comparative

OMIA group 3070

Pulmonary hypertension, BMPR2-related

The chain reaches the human disease pulmonary hypertension, primary, 1, which Mondo defines as: “Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 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 0.82.

  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.

pulmonary hypertension, primary, 1

41.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.7 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 Both routes found this disease 10.0 of 10
Species 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 0.0 of 10
pulmonary venoocclusive disease 1

31.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.70 24.4 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
sheep Genetically engineered, not naturally occurring. Not counted in the score. Ovis aries OMIA:003070-9940 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
sheep BMPR2 bone morphogenetic protein receptor type 2 NCBI Gene 101103793 BMPR2 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.

The two routes found some of the same diseases, but not all.

Mondo disease Name Found by
MONDO:0024533 pulmonary hypertension, primary, 1 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. Both routes
MONDO:0020713 pulmonary venoocclusive disease 1 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
BMPR2 pulmonary hypertension, primary, 1 0.82 729 Genetic association 0.97 Genetic literature 0.84 Animal model 0.53 Literature 0.03
BMPR2 pulmonary venoocclusive disease 1 0.70 173 Genetic association 0.93 Genetic literature 0.83 Animal model 0.59

Drugs

Drugs act on BMPR2, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Dibotermin Alfa BMPR2 agonist Approved No
Eptotermin Alfa BMPR2 agonist Approved No

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