OMIA group 2148

Deafness, bilateral, and vestibular dysfunction, MYO7A-related

The chain reaches the human disease autosomal dominant nonsyndromic hearing loss 11, which Mondo defines as: “Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A 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.

Animal disease

Reached

OMIA records it in 2 species entries marked as a defect.
Human disease

Reached

3 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

3 Open Targets associations, with a best score of 0.84.
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.

Usher syndrome type 1B

61.2 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.84	29.2 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	2 naturally occurring species entries marked as a defect	7.0 of 10

autosomal recessive nonsyndromic hearing loss 2

59.6 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.79	27.6 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	2 naturally occurring species entries marked as a defect	7.0 of 10

autosomal dominant nonsyndromic hearing loss 11

58.9 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	2 naturally occurring species entries marked as a defect	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
dog	Canis lupus familiaris	OMIA:002148-9615	Yes
pig	Sus scrofa	OMIA:002148-9823	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	MYO7A myosin VIIA NCBI Gene 485174	MYO7A Ensembl	one to one
pig	MYO7A myosin VIIA NCBI Gene 397373	MYO7A 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:0011032	autosomal dominant nonsyndromic hearing loss 11 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	OMIA's OMIM numbers
MONDO:0010807	autosomal recessive nonsyndromic hearing loss 2 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	OMIA's OMIM numbers
MONDO:0700087	Usher syndrome type 1B Usher syndrome in which the cause of the disease is a mutation in the MYO7A 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.

Human gene	Human disease	Score	Evidence	Kinds of evidence
MYO7A	Usher syndrome type 1B	0.84	933	Genetic association 0.97 Genetic literature 0.77 Animal model 0.64 Literature 0.15
MYO7A	autosomal recessive nonsyndromic hearing loss 2	0.79	954	Genetic association 0.92 Genetic literature 0.72 Animal model 0.59 Literature 0.13
MYO7A	autosomal dominant nonsyndromic hearing loss 11	0.77	607	Genetic association 0.92 Genetic literature 0.61 Animal model 0.59 Literature 0.18

Drugs

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