OMIA group 809

Polycythemia

The chain reaches the human disease acquired polycythemia vera, which Mondo defines as: “An acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.” 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 4 species entries marked as a defect.
Human disease

Reached

2 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

2 Open Targets associations, with a best score of 0.80.
Drugs

Reached

24 ChEMBL drugs, 10 approved. At least one 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.

acquired polycythemia vera

88.2 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.80	28.2 of 35
Drugs	A drug has reached approved for this disease	25.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	4 naturally occurring species entries marked as a defect	10.0 of 10

primary familial polycythemia due to EPO receptor mutation

56.1 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.53	18.6 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	4 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:000809-9615	Yes
domestic cat	Felis catus	OMIA:000809-9685	Yes
domestic cattle	Bos taurus	OMIA:000809-9913	Yes
llama	Lama glama	OMIA:000809-9844	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	JAK2 Janus kinase 2 NCBI Gene 484185	JAK2 Ensembl	one to one
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
llama	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: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0009891	acquired polycythemia vera An acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	OMIA's OMIM numbers
MONDO:0007572	primary familial polycythemia due to EPO receptor mutation Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.	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
JAK2	acquired polycythemia vera	0.80	2,129	Literature 0.97 Known drug 0.92 Genetic association 0.79 Genetic literature 0.61 Somatic mutation 0.61 Animal model 0.44
JAK2	primary familial polycythemia due to EPO receptor mutation	0.53	21	Genetic association 0.68 Genetic literature 0.61 Animal model 0.55 Somatic mutation 0.30 Literature 0.07

Drugs

A drug acts on JAK2 and has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Fedratinib	JAK2	inhibitor	Approved	Approved for acquired polycythemia vera
Momelotinib	JAK2	inhibitor	Approved	Approved for acquired polycythemia vera
Pacritinib	JAK2	inhibitor	Approved	Approved for acquired polycythemia vera
Ruxolitinib	JAK2	inhibitor	Approved	Approved for acquired polycythemia vera
Lestaurtinib	JAK2	inhibitor	Approved	Phase 2 for acquired polycythemia vera
Gandotinib	JAK2	inhibitor	Phase 2	Phase 2 for acquired polycythemia vera
Xl-019	JAK2	inhibitor	Phase 3	Phase 1 for acquired polycythemia vera
Baricitinib	JAK2	inhibitor	Approved	No
Delgocitinib	JAK2	inhibitor	Approved	No
Filgotinib	JAK2	inhibitor	Approved	No
Tofacitinib	JAK2	inhibitor	Approved	No
Upadacitinib	JAK2	inhibitor	Approved	No
At-9283	JAK2	inhibitor	Phase 3	No
Peficitinib	JAK2	inhibitor	Phase 3	No
Izencitinib	JAK2	inhibitor	Phase 2/3	No
Azd-1480	JAK2	inhibitor	Phase 2	No
Bms-911543	JAK2	inhibitor	Phase 2	No
Gusacitinib	JAK2	inhibitor	Phase 2	No
Nezulcitinib	JAK2	inhibitor	Phase 2	No
Ns-018	JAK2	inhibitor	Phase 2	No
Zotiraciclib	JAK2	inhibitor	Phase 1/2	No
Ac-430	JAK2	inhibitor	Phase 1	No
Ct-1578	JAK2	inhibitor	Phase 1	No
Ls-104	JAK2	inhibitor	Unknown	No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.