Comparative

OMIA group 841

Pulmonary hypertension

The chain reaches the human disease erythrocytosis, familial, 4, which Mondo defines as: “Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 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 4 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 0.75.

  5. Drugs

    Reached

    1 ChEMBL drug, 1 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.

erythrocytosis, familial, 4

63.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.75 26.4 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 4 naturally occurring species entries marked as a defect 10.0 of 10

Species

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

Species Scientific name OMIA entry A defect
chicken Gallus gallus OMIA:000841-9031 No, not counted
dog Canis lupus familiaris OMIA:000841-9615 Yes
domestic cat Felis catus OMIA:000841-9685 Yes
domestic cattle Bos taurus OMIA:000841-9913 Yes
goat Capra hircus OMIA:000841-9925 No, not counted
pig Sus scrofa OMIA:000841-9823 Yes
sheep Ovis aries OMIA:000841-9940 Unknown, not counted
zebu cattle Bos indicus OMIA:000841-9915 Unknown, not counted

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 No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
domestic cattle EPAS1 endothelial PAS domain protein 1 NCBI Gene 282711 EPAS1 Ensembl one to one
pig No gene OMIA records no gene for this species entry.
chicken Not a defect, not counted No gene OMIA records no gene for this species entry.
goat Not a defect, not counted EPAS1 endothelial PAS domain protein 1 NCBI Gene 102180230 EPAS1 Ensembl one to one
sheep Not a defect, not counted No gene OMIA records no gene for this species entry.
zebu cattle Not a defect, not counted No gene OMIA records no gene for this species entry.

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:0012729 erythrocytosis, familial, 4 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 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
EPAS1 erythrocytosis, familial, 4 0.75 168 Genetic association 0.90 Genetic literature 0.67 Animal model 0.49 Literature 0.08

Drugs

Drugs act on EPAS1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Belzutifan EPAS1 inhibitor Approved No

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