OMIA group 2229
Hypotrichosis, HR-related
The chain reaches the human disease alopecia universalis congenita, which Mondo defines as: “The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.”
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 3 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
Reached
1 Open Targets association, with a best score of 0.76.
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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.
78.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.76 | 26.7 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 | 2 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 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 |
|---|---|---|---|
| beluga whale | Delphinapterus leucas | OMIA:002229-9749 | No, not counted |
| common bottlenose dolphin | Tursiops truncatus | OMIA:002229-9739 | No, not counted |
| domestic cat | Felis catus | OMIA:002229-9685 | Yes |
| Indo-Pacific finless porpoise | Neophocaena phocaenoides | OMIA:002229-34892 | No, not counted |
| long-beaked common dolphin | Delphinus capensis | OMIA:002229-103584 | No, not counted |
| minke whale | Balaenoptera acutorostrata | OMIA:002229-9767 | No, not counted |
| Omura's baleen whale | Balaenoptera omurai | OMIA:002229-255217 | No, not counted |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002229-9823 | Yes |
| sheep | Ovis aries | OMIA:002229-9940 | Yes |
| Yangtze River dolphin | Lipotes vexillifer | OMIA:002229-118797 | No, not counted |
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 |
|---|---|---|---|
| domestic cat | HR NCBI Gene ID: 101090097 NCBI Gene 101090097 | HR Ensembl | one to one |
| pig | HR hair growth associated NCBI Gene 397617 | HR Ensembl | one to one |
| sheep | HR hair growth associated NCBI Gene 443241 | HR Ensembl | one to one |
| beluga whale Not a defect, not counted | HR NCBI Gene 111169011 | HR Ensembl | one to one |
| common bottlenose dolphin Not a defect, not counted | HR hair growth associated NCBI Gene 101317318 | Ensembl does not know this NCBI Gene identifier. | |
| Indo-Pacific finless porpoise Not a defect, not counted | HR | No NCBI Gene identifier in OMIA. | |
| long-beaked common dolphin Not a defect, not counted | HR | No NCBI Gene identifier in OMIA. | |
| minke whale Not a defect, not counted | HR NCBI Gene 103014592 | Ensembl has no gene cross-references for this species. | |
| Omura's baleen whale Not a defect, not counted | HR | No NCBI Gene identifier in OMIA. | |
| Yangtze River dolphin Not a defect, not counted | HR hair growth associated NCBI Gene 103089845 | 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.
- 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:0008757 | alopecia universalis congenita The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. | 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.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| HR | alopecia universalis congenita | 0.76 | 299 | Animal model 0.94 Genetic association 0.84 Genetic literature 0.77 Literature 0.04 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.