Comparative

OMIA group 2332

Long QT syndrome, KCNQ1-related

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

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.85.

  5. Drugs

    Reached

    6 ChEMBL drugs, 4 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.

long QT syndrome 1

69.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.85 29.8 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 Both routes found this disease 10.0 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
dog Canis lupus familiaris OMIA:002332-9615 Yes
rabbit Oryctolagus cuniculus OMIA:002332-9986 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
dog KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 NCBI Gene 483669 KCNQ1 Ensembl one to one
rabbit KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 NCBI Gene 100009443 Ensembl does not know this NCBI Gene identifier.

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:0100316 long QT syndrome 1 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.

Human gene Human disease Score Evidence Kinds of evidence
KCNQ1 long QT syndrome 1 0.85 1,012 Genetic association 0.98 Genetic literature 0.80 Literature 0.78 Animal model 0.78

Drugs

Drugs act on KCNQ1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Amifampridine KCNQ1 blocker Approved No
Dalfampridine KCNQ1 blocker Approved No
Ezogabine KCNQ1 opener Approved No
Tedisamil KCNQ1 blocker Approved No
Nerispirdine KCNQ1 blocker Phase 2 No
Guanidine KCNQ1 blocker Unknown No

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