OMIA group 621
Malignant hyperthermia
The chain reaches the human disease malignant hyperthermia, susceptibility to, 1, which Mondo defines as: “Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 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.
-
Animal disease
Reached
OMIA records it in 8 species entries marked as a defect.
-
Human disease
Reached
1 Mondo disease.
-
Human gene
Reached
1 human gene.
-
Target evidence
Stopped here
None of the group's human diseases is in Open Targets.
-
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.
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 |
|---|---|---|---|
| deer | Cervidae | OMIA:000621-9850 | Yes |
| dog | Canis lupus familiaris | OMIA:000621-9615 | Yes |
| domestic cat | Felis catus | OMIA:000621-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000621-9913 | Yes |
| horse | Equus caballus | OMIA:000621-9796 | Yes |
| pig | Sus scrofa | OMIA:000621-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:000621-9986 | Yes |
| turkey | Meleagris gallopavo | OMIA:000621-9103 | 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 |
|---|---|---|---|
| deer | No gene | OMIA records no gene for this species entry. | |
| dog | RYR1 ryanodine receptor 1 (skeletal) NCBI Gene 606491 | RYR1 Ensembl | one to one |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| horse | RYR1 ryanodine receptor 1 (skeletal) NCBI Gene 100034090 | RYR1 Ensembl | one to one |
| pig | RYR1 ryanodine receptor 1 (skeletal) NCBI Gene 396718 | RYR1 Ensembl | one to one |
| rabbit | RYR1 ryanodine receptor 1 (skeletal) NCBI Gene 100009540 | RYR1 Ensembl | one to one |
| turkey | 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.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0007783 | malignant hyperthermia, susceptibility to, 1 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.