OMIA group 1041
Ventricular septal defect
The chain reaches the human disease ventricular septal defect 1, which Mondo defines as: “Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.” 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.
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Animal disease
Reached
OMIA records it in 12 species entries marked as a defect.
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Human disease
Reached
3 Mondo diseases.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 12 naturally occurring species entries marked as a defect | 10.0 of 10 |
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 12 naturally occurring species entries marked as a defect | 10.0 of 10 |
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 12 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 |
|---|---|---|---|
| alpaca | Vicugna pacos | OMIA:001041-30538 | Yes |
| chicken | Gallus gallus | OMIA:001041-9031 | Yes |
| chimpanzee | Pan troglodytes | OMIA:001041-9598 | Yes |
| dog | Canis lupus familiaris | OMIA:001041-9615 | Yes |
| domestic cat | Felis catus | OMIA:001041-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:001041-9913 | Yes |
| goat | Capra hircus | OMIA:001041-9925 | Yes |
| horse | Equus caballus | OMIA:001041-9796 | Yes |
| pig | Sus scrofa | OMIA:001041-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:001041-9986 | Yes |
| sheep | Ovis aries | OMIA:001041-9940 | Yes |
| turkey | Meleagris gallopavo | OMIA:001041-9103 | 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 |
|---|---|---|---|
| alpaca | No gene | OMIA records no gene for this species entry. | |
| chicken | No gene | OMIA records no gene for this species entry. | |
| chimpanzee | No gene | OMIA records no gene for this species entry. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| goat | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| sheep | No gene | OMIA records no gene for this species entry. | |
| 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:0013746 | ventricular septal defect 1 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. | OMIA's OMIM numbers |
| MONDO:0013748 | ventricular septal defect 2 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. | OMIA's OMIM numbers |
| MONDO:0013749 | ventricular septal defect 3 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 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.