Comparative

OMIA group 1547

Wingless-2

The chain reaches the human disease LEOPARD syndrome 2, which Mondo defines as: “Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.” 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.

  1. Animal disease

    Reached

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

  2. Human disease

    Reached

    2 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

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

  5. Drugs

    Reached

    10 ChEMBL drugs, 3 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.

Noonan syndrome 5

58.3 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.77 26.8 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 1 naturally occurring species entry marked as a defect 4.0 of 10
LEOPARD syndrome 2

56.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.71 24.9 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 1 naturally occurring species entry marked as a defect 4.0 of 10

Species

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

Species Scientific name OMIA entry A defect
chicken Gallus gallus OMIA:001547-9031 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
chicken RAF1 Raf-1 proto-oncogene, serine/threonine kinase NCBI Gene 396245 RAF1 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.

Mondo disease Name Found by
MONDO:0012691 LEOPARD syndrome 2 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. OMIA's OMIM numbers
MONDO:0012690 Noonan syndrome 5 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 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
RAF1 Noonan syndrome 5 0.77 176 Genetic association 0.93 Genetic literature 0.88 Animal model 0.40 Literature 0.04
RAF1 LEOPARD syndrome 2 0.71 121 Genetic literature 0.94 Genetic association 0.90 Animal model 0.33 Literature 0.03

Drugs

Drugs act on RAF1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Regorafenib RAF1 inhibitor Approved No
Sorafenib RAF1 inhibitor Approved No
Tovorafenib RAF1 inhibitor Approved No
Naporafenib RAF1 inhibitor Phase 3 No
Belvarafenib RAF1 inhibitor Phase 2 No
Xl-281 RAF1 inhibitor Phase 1/2 No
Ly-3009120 RAF1 inhibitor Phase 1 No
Arq-736 Free Acid RAF1 inhibitor Unknown No
Lgx-806 RAF1 inhibitor Unknown No
Rg-7376 RAF1 inhibitor Unknown No

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