OMIA group 3084

Hyperlipidaemia/atherosclerosis, APOA5-related

The chain reaches the human disease hyperlipoproteinemia type V, which Mondo defines as: “A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.” 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.

Animal disease

Reached

OMIA records it in 1 species entry marked as a defect.
Human disease

Reached

2 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

1 Open Targets association, 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.

hyperlipoproteinemia type V

31.9 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	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted	0.0 of 10

hypertriglyceridemia 1

5.0 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	No gene of a naturally occurring entry reaches a human gene	0.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted	0.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
rabbit Genetically engineered, not naturally occurring. Not counted in the score.	Oryctolagus cuniculus	OMIA:003084-9986	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
rabbit	APOA5 apolipoprotein A5 NCBI Gene 100328796	APOA5 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:0007762	hyperlipoproteinemia type V A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.	OMIA's OMIM numbers
MONDO:0007788	hypertriglyceridemia 1	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
APOA5	hyperlipoproteinemia type V	0.77	33	Genetic literature 0.86 Genetic association 0.84 Animal model 0.71 Literature 0.05

Drugs

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