Comparative

OMIA group 698

Myotonia

The chain reaches the human disease myotonia congenita, autosomal recessive, which Mondo defines as: “Autosomal recessive form of myotonia congenita.” It reaches 2 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 8 species entries marked as a defect.

  2. Human disease

    Reached

    3 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    2 Open Targets associations, with a best score of 0.76.

  5. Drugs

    Stopped here

    No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

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.

Thomsen and Becker disease

81.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.74 26.1 of 35
Drugs A drug has reached phase 3 for this disease 20.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 8 naturally occurring species entries marked as a defect 10.0 of 10
myotonia congenita, autosomal recessive

61.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.76 26.7 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 One route found this disease 5.0 of 10
Species 8 naturally occurring species entries marked as a defect 10.0 of 10
myotonia congenita, autosomal dominant

35.0 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 One route found this disease 5.0 of 10
Species 8 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
dog Canis lupus familiaris OMIA:000698-9615 Yes
domestic cat Felis catus OMIA:000698-9685 Yes
domestic cattle Bos taurus OMIA:000698-9913 Yes
goat Capra hircus OMIA:000698-9925 Yes
horse Equus caballus OMIA:000698-9796 Yes
pig Sus scrofa OMIA:000698-9823 Yes
sheep Ovis aries OMIA:000698-9940 Yes
water buffalo Bubalus bubalis OMIA:000698-89462 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 CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 403723 CLCN1 Ensembl one to one
domestic cat CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 101088564 Ensembl does not know this NCBI Gene identifier.
domestic cattle No gene OMIA records no gene for this species entry.
goat CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 100750232 CLCN1 Ensembl one to one
horse CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 100050692 CLCN1 Ensembl one to one
pig CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 100520812 CLCN1 Ensembl one to one
sheep CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 101115453 CLCN1 Ensembl one to one
water buffalo CLCN1 chloride channel, voltage-sensitive 1 NCBI Gene 102396033 Ensembl has no gene cross-references for this species.

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 different diseases. OMIA's own link is broader: its disease is a parent of one the OMIM numbers found.

Mondo disease Name Found by
MONDO:0008055 myotonia congenita, autosomal dominant OMIA's OMIM numbers
MONDO:0009715 myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. OMIA's OMIM numbers
MONDO:0009710 Thomsen and Becker disease A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). OMIA's own Mondo link

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
CLCN1 myotonia congenita, autosomal recessive 0.76 68 Genetic association 0.99 Genetic literature 0.73 Animal model 0.52 Literature 0.09
CLCN1 Thomsen and Becker disease 0.74 1,961 Genetic association 0.87 Genetic literature 0.83 Animal model 0.61 Literature 0.34

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.