OMIA group 1678
Epidermolysis bullosa, junctionalis, LAMC2-related
The chain reaches the human disease junctional epidermolysis bullosa Herlitz type, which Mondo defines as: “Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.” 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 3 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
2 Open Targets associations, with a best score of 0.71.
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Drugs
Reached
1 ChEMBL drug, 1 approved. None has been tested for this disease.
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.
62.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.71 | 25.0 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 3 naturally occurring species entries marked as a defect | 10.0 of 10 |
59.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.62 | 21.8 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 3 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 |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:001678-9913 | Yes |
| horse | Equus caballus | OMIA:001678-9796 | Yes |
| sheep | Ovis aries | OMIA:001678-9940 | 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 |
|---|---|---|---|
| domestic cattle | LAMC2 laminin subunit gamma 2 NCBI Gene 511043 | LAMC2 Ensembl | one to one |
| horse | LAMC2 laminin, gamma 2 NCBI Gene 791245 | LAMC2 Ensembl | one to one |
| sheep | LAMC2 laminin subunit gamma 2 NCBI Gene 100216328 | LAMC2 Ensembl | one to one |
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:0009182 | junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. | OMIA's OMIM numbers |
| MONDO:0009180 | junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. | 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 |
|---|---|---|---|---|
| LAMC2 | junctional epidermolysis bullosa Herlitz type | 0.71 | 158 | Genetic association 0.84 Genetic literature 0.83 Animal model 0.30 Literature 0.12 |
| LAMC2 | junctional epidermolysis bullosa, non-Herlitz type | 0.62 | 22 | Genetic association 0.82 Genetic literature 0.76 Animal model 0.37 |
Drugs
Drugs act on LAMC2, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Ocriplasmin | LAMC2 | hydrolytic enzyme | Approved | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.