OMIA group 2081

Epidermolysis bullosa simplex, KRT5-related

The chain reaches the human disease Dowling-Degos disease 1, which Mondo defines as: “Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.” It reaches 6 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.

Animal disease

Reached

OMIA records it in 3 species entries marked as a defect.
Human disease

Reached

7 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

7 Open Targets associations, with a best score of 0.77.
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.

epidermolysis bullosa simplex 2C, localized

61.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.77	26.9 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	3 naturally occurring species entries marked as a defect	10.0 of 10

epidermolysis bullosa simplex 2A, generalized severe

61.7 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.76	26.7 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	3 naturally occurring species entries marked as a defect	10.0 of 10

epidermolysis bullosa simplex 2B, generalized intermediate

61.7 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.76	26.7 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	3 naturally occurring species entries marked as a defect	10.0 of 10

epidermolysis bullosa simplex 2F, with mottled pigmentation

60.6 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.73	25.6 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	3 naturally occurring species entries marked as a defect	10.0 of 10

Dowling-Degos disease 1

59.4 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.70	24.4 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	3 naturally occurring species entries marked as a defect	10.0 of 10

epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

59.2 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.69	24.2 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	3 naturally occurring species entries marked as a defect	10.0 of 10

epidermolysis bullosa simplex 2E, with migratory circinate erythema

57.7 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.65	22.7 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	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
dog	Canis lupus familiaris	OMIA:002081-9615	Yes
domestic cattle	Bos taurus	OMIA:002081-9913	Yes
Rhesus monkey	Macaca mulatta	OMIA:002081-9544	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
dog	KRT5 keratin 5, type II NCBI Gene 100687760	Ensembl does not know this NCBI Gene identifier.
domestic cattle	KRT5 keratin 5, type II NCBI Gene 281268	KRT5 Ensembl	one to one
Rhesus monkey	KRT5 keratin 5 NCBI Gene 100424400	KRT5 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:0024534	Dowling-Degos disease 1 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.	OMIA's OMIM numbers
MONDO:0030489	epidermolysis bullosa simplex 2A, generalized severe	OMIA's OMIM numbers
MONDO:0030525	epidermolysis bullosa simplex 2B, generalized intermediate	OMIA's OMIM numbers
MONDO:0030527	epidermolysis bullosa simplex 2C, localized	OMIA's OMIM numbers
MONDO:0030535	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	OMIA's OMIM numbers
MONDO:0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	OMIA's OMIM numbers
MONDO:0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	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
KRT5	epidermolysis bullosa simplex 2C, localized	0.77	55	Genetic association 0.96 Genetic literature 0.61
KRT5	epidermolysis bullosa simplex 2A, generalized severe	0.76	37	Genetic association 0.94 Genetic literature 0.61 Animal model 0.39
KRT5	epidermolysis bullosa simplex 2B, generalized intermediate	0.76	38	Genetic association 0.95 Genetic literature 0.61
KRT5	epidermolysis bullosa simplex 2F, with mottled pigmentation	0.73	21	Genetic association 0.79 Genetic literature 0.72 Animal model 0.44
KRT5	Dowling-Degos disease 1	0.70	47	Genetic association 0.82 Genetic literature 0.76 Literature 0.23
KRT5	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	0.69	19	Genetic association 0.85 Genetic literature 0.61 Animal model 0.29
KRT5	epidermolysis bullosa simplex 2E, with migratory circinate erythema	0.65	16	Genetic association 0.80 Genetic literature 0.61 Animal model 0.35

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.