OMIA group 536
Hypothyroidism, congenital
The chain reaches the human disease thyroid dyshormonogenesis 2A, which Mondo defines as: “Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.”
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.
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Animal disease
Reached
OMIA records it in 8 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Stopped here
None of the group's human diseases is in Open Targets.
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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.
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 | 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 |
|---|---|---|---|
| chicken | Gallus gallus | OMIA:000536-9031 | Yes |
| dog | Canis lupus familiaris | OMIA:000536-9615 | Yes |
| domestic cat | Felis catus | OMIA:000536-9685 | Yes |
| goat | Capra hircus | OMIA:000536-9925 | Yes |
| horse | Equus caballus | OMIA:000536-9796 | Yes |
| lesser panda | Ailurus fulgens | OMIA:000536-9649 | Yes |
| rock pigeon | Columba livia | OMIA:000536-8932 | Yes |
| sheep | Ovis aries | OMIA:000536-9940 | 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 |
|---|---|---|---|
| chicken | No gene | OMIA records no gene for this species entry. | |
| dog | TPO thyroid peroxidase NCBI Gene 403521 | TPO Ensembl | one to one |
| domestic cat | TPO thyroid peroxidase NCBI Gene 101098706 | Ensembl does not know this NCBI Gene identifier. | |
| goat | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| lesser panda | No gene | OMIA records no gene for this species entry. | |
| rock pigeon | No gene | OMIA records no gene for this species entry. | |
| sheep | 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: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0010133 | thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. | 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.