OMIA group 944
Spongiform encephalopathy, susceptibility/resistance to
The chain reaches the human disease kuru, which Mondo defines as: “A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)” It reaches 1 more human disease, 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 40 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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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 0.39.
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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.
48.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.39 | 13.7 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 | 40 naturally occurring species entries marked as a defect | 10.0 of 10 |
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 | 40 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 |
|---|---|---|---|
| American bison | Bison bison | OMIA:000944-9901 | Yes |
| American mink | Neogale vison | OMIA:000944-452646 | Unknown, not counted |
| Arabian camel | Camelus dromedarius | OMIA:000944-9838 | Yes |
| Arabian oryx | Oryx leucoryx | OMIA:000944-39411 | Yes |
| Bank vole | Myodes glareolus | OMIA:000944-447135 | Yes |
| bighorn sheep | Ovis canadensis | OMIA:000944-37174 | Yes |
| black-tailed deer | Odocoileus hemionus columbianus | OMIA:000944-9873 | Unknown, not counted |
| blue antelope | Hippotragus leucophaeus | OMIA:000944-37185 | Yes |
| Cervus elaphus hispanicus | Cervus elaphus hispanicus | OMIA:000944-141655 | Yes |
| cheetah | Acinonyx jubatus | OMIA:000944-32536 | Yes |
| chicken | Gallus gallus | OMIA:000944-9031 | Yes |
| chital | Axis axis | OMIA:000944-30531 | Unknown, not counted |
| common eland | Tragelaphus oryx | OMIA:000944-9945 | Yes |
| coyote | Canis latrans | OMIA:000944-9614 | Yes |
| crab-eating macaque | Macaca fascicularis | OMIA:000944-9541 | Yes |
| deer | Cervidae | OMIA:000944-9850 | Yes |
| dog | Canis lupus familiaris | OMIA:000944-9615 | Yes |
| domestic cat | Felis catus | OMIA:000944-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000944-9913 | Yes |
| domestic ferret | Mustela putorius furo | OMIA:000944-9669 | Unknown, not counted |
| domestic guinea pig | Cavia porcellus | OMIA:000944-10141 | Unknown, not counted |
| domestic yak | Bos grunniens | OMIA:000944-30521 | Yes |
| Eastern wapiti | Cervus canadensis canadensis | OMIA:000944-9861 | Yes |
| Eurasian elk | Alces alces | OMIA:000944-9852 | Yes |
| Eurasian tree sparrow | Passer montanus | OMIA:000944-9160 | Yes |
| fallow deer | Dama dama | OMIA:000944-30532 | Unknown, not counted |
| gemsbok | Oryx gazella | OMIA:000944-9958 | Yes |
| goat Naturally occurring, and also genetically engineered. | Capra hircus | OMIA:000944-9925 | Yes |
| golden hamster | Mesocricetus auratus | OMIA:000944-10036 | Yes |
| greater kudu | Tragelaphus strepsiceros | OMIA:000944-9946 | Yes |
| horse | Equus caballus | OMIA:000944-9796 | Unknown, not counted |
| Japanese quail | Coturnix japonica | OMIA:000944-93934 | Unknown, not counted |
| macaques | Macaca | OMIA:000944-9539 | Unknown, not counted |
| mallard | Anas platyrhynchos | OMIA:000944-8839 | Unknown, not counted |
| Manchurian Wapiti | Cervus elaphus xanthopygus | OMIA:000944-9865 | Yes |
| mouflon | Ovis aries musimon | OMIA:000944-9938 | Yes |
| mule deer | Odocoileus hemionus | OMIA:000944-9872 | Yes |
| North American deer mouse | Peromyscus maniculatus | OMIA:000944-10042 | Yes |
| nyala | Tragelaphus angasii | OMIA:000944-66437 | Yes |
| pig | Sus scrofa | OMIA:000944-9823 | Unknown, not counted |
| puma | Puma concolor | OMIA:000944-9696 | Unknown, not counted |
| rabbit | Oryctolagus cuniculus | OMIA:000944-9986 | Unknown, not counted |
| raccoon dog | Nyctereutes procyonoides | OMIA:000944-34880 | Yes |
| red deer | Cervus elaphus | OMIA:000944-9860 | Yes |
| Reeves' muntjac | Muntiacus reevesi | OMIA:000944-9886 | Yes |
| reindeer | Rangifer tarandus | OMIA:000944-9870 | Yes |
| Rhesus monkey | Macaca mulatta | OMIA:000944-9544 | Unknown, not counted |
| ring-necked pheasant | Phasianus colchicus | OMIA:000944-9054 | Unknown, not counted |
| Rupicapra pyrenaica pyrenaica | Rupicapra pyrenaica pyrenaica | OMIA:000944-130902 | Yes |
| scimitar-horned oryx | Oryx dammah | OMIA:000944-59534 | Yes |
| sheep | Ovis aries | OMIA:000944-9940 | Yes |
| sika deer | Cervus nippon | OMIA:000944-9863 | Yes |
| Spanish ibex | Capra pyrenaica | OMIA:000944-80419 | Yes |
| water buffalo | Bubalus bubalis | OMIA:000944-89462 | Unknown, not counted |
| Western roe deer | Capreolus capreolus | OMIA:000944-9858 | Yes |
| white-tailed deer | Odocoileus virginianus | OMIA:000944-9874 | Yes |
| white-tufted-ear marmoset | Callithrix jacchus | OMIA:000944-9483 | Unknown, not counted |
| zebu cattle | Bos indicus | OMIA:000944-9915 | Unknown, 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 |
|---|---|---|---|
| American bison | No gene | OMIA records no gene for this species entry. | |
| Arabian camel | No gene | OMIA records no gene for this species entry. | |
| Arabian oryx | No gene | OMIA records no gene for this species entry. | |
| Bank vole | PRNP NCBI Gene 125413743 | Ensembl has no gene cross-references for this species. | |
| bighorn sheep | No gene | OMIA records no gene for this species entry. | |
| blue antelope | No gene | OMIA records no gene for this species entry. | |
| Cervus elaphus hispanicus | No gene | OMIA records no gene for this species entry. | |
| cheetah | No gene | OMIA records no gene for this species entry. | |
| chicken | Prnp prion protein NCBI Gene 24686 | The gene belongs to a different species than the entry. | |
| common eland | No gene | OMIA records no gene for this species entry. | |
| coyote | No gene | OMIA records no gene for this species entry. | |
| crab-eating macaque | No gene | OMIA records no gene for this species entry. | |
| deer | 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 | PRNP prion protein NCBI Gene 281427 | PRNP Ensembl | one to one |
| domestic yak | No gene | OMIA records no gene for this species entry. | |
| Eastern wapiti | No gene | OMIA records no gene for this species entry. | |
| Eurasian elk | No gene | OMIA records no gene for this species entry. | |
| Eurasian tree sparrow | No gene | OMIA records no gene for this species entry. | |
| gemsbok | No gene | OMIA records no gene for this species entry. | |
| goat | PRNP prion protein NCBI Gene 102169975 | PRNP Ensembl | one to one |
| golden hamster | No gene | OMIA records no gene for this species entry. | |
| greater kudu | No gene | OMIA records no gene for this species entry. | |
| Manchurian Wapiti | No gene | OMIA records no gene for this species entry. | |
| mouflon | No gene | OMIA records no gene for this species entry. | |
| mule deer | No gene | OMIA records no gene for this species entry. | |
| North American deer mouse | No gene | OMIA records no gene for this species entry. | |
| nyala | No gene | OMIA records no gene for this species entry. | |
| raccoon dog | No gene | OMIA records no gene for this species entry. | |
| red deer | No gene | OMIA records no gene for this species entry. | |
| Reeves' muntjac | No gene | OMIA records no gene for this species entry. | |
| reindeer | No gene | OMIA records no gene for this species entry. | |
| Rupicapra pyrenaica pyrenaica | No gene | OMIA records no gene for this species entry. | |
| scimitar-horned oryx | No gene | OMIA records no gene for this species entry. | |
| sheep | PRNP prion protein NCBI Gene 493887 | PRNP Ensembl | one to one |
| sika deer | No gene | OMIA records no gene for this species entry. | |
| Spanish ibex | No gene | OMIA records no gene for this species entry. | |
| Western roe deer | No gene | OMIA records no gene for this species entry. | |
| white-tailed deer | PRNP NCBI Gene 110131178 | Ensembl has no gene cross-references for this species. | |
| American mink Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| black-tailed deer Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| chital Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| domestic ferret Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| domestic guinea pig Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| fallow deer Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| horse Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| Japanese quail Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| macaques Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| mallard Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| pig Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| puma Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| rabbit Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| Rhesus monkey Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| ring-necked pheasant Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| water buffalo Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| white-tufted-ear marmoset Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| zebu cattle Not a defect, not counted | 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.
The two routes found different diseases.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0006825 | kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) | OMIA's own Mondo link |
| MONDO:0009500 | kuru, susceptibility to | 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 |
|---|---|---|---|---|
| PRNP | kuru | 0.39 | 51 | Animal model 0.64 Genetic literature 0.61 Literature 0.10 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.