Comparative

OMIA group 807

Polycystic kidney disease

The chain reaches the human disease polycystic kidney disease 1, which Mondo defines as: “Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 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 14 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Stopped here

    None of the group's human diseases is in Open Targets.

  5. Drugs

    Not reached

    The chain stopped before this step.

The chain stopped at Target evidence: None of the group's human diseases is in Open Targets.

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.

polycystic kidney disease 1

40.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 13 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 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
crab-eating macaque Naturally occurring, and also genetically engineered. Macaca fascicularis OMIA:000807-9541 Yes
degu Octodon degus OMIA:000807-10160 Yes
dog Canis lupus familiaris OMIA:000807-9615 Yes
domestic cat Felis catus OMIA:000807-9685 Yes
domestic cattle Bos taurus OMIA:000807-9913 Yes
horse Equus caballus OMIA:000807-9796 Yes
lion Panthera leo OMIA:000807-9689 Yes
markhor Capra falconeri OMIA:000807-48167 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:000807-9823 Yes
rabbit Oryctolagus cuniculus OMIA:000807-9986 Yes
sheep Ovis aries OMIA:000807-9940 Yes
springbok Antidorcas marsupialis OMIA:000807-59523 Yes
Western roe deer Capreolus capreolus OMIA:000807-9858 Yes
white-tailed deer Odocoileus virginianus OMIA:000807-9874 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
crab-eating macaque PKD1 polycystin 1, transient receptor potential channel interacting NCBI Gene 102133534 Ensembl does not know this NCBI Gene identifier.
degu No gene OMIA records no gene for this species entry.
dog PKD1 polycystic kidney disease 1 (autosomal dominant) NCBI Gene 606755 No human ortholog in Ensembl.
domestic cat PKD1 polycystic kidney disease 1 (autosomal dominant) NCBI Gene 100144606 PKD1 Ensembl one to one
domestic cattle No gene OMIA records no gene for this species entry.
horse No gene OMIA records no gene for this species entry.
lion No gene OMIA records no gene for this species entry.
markhor No gene OMIA records no gene for this species entry.
pig PKD1 polycystic kidney disease 1 (autosomal dominant) NCBI Gene 100516429 PKD1 Ensembl one to one
rabbit No gene OMIA records no gene for this species entry.
sheep No gene OMIA records no gene for this species entry.
springbok No gene OMIA records no gene for this species entry.
Western roe deer No gene OMIA records no gene for this species entry.
white-tailed deer 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:0008263 polycystic kidney disease 1 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. Both routes

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.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.