Comparative

OMIA group 202

Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related

The chain reaches the human disease oculocutaneous albinism type 1A, which Mondo defines as: “Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.” 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 17 species entries 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 0.85.

  5. Drugs

    Reached

    3 ChEMBL drugs, 2 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.

oculocutaneous albinism type 1A

67.4 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.85 29.9 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 16 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 10.0 of 10
oculocutaneous albinism type 1B

66.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.5 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 16 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 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
American bison Bison bison OMIA:000202-9901 Unknown, not counted
American mink Neogale vison OMIA:000202-452646 Yes
axolotl Naturally occurring, and also genetically engineered. Ambystoma mexicanum OMIA:000202-8296 Yes
ball python Python regius OMIA:000202-51751 Unknown, not counted
dark-spotted frog Pelophylax nigromaculatus OMIA:000202-8409 No, not counted
dog Canis lupus familiaris OMIA:000202-9615 Yes
domestic cat Felis catus OMIA:000202-9685 Yes
domestic cattle Bos taurus OMIA:000202-9913 Yes
domestic ferret Mustela putorius furo OMIA:000202-9669 Yes
domestic guinea pig Cavia porcellus OMIA:000202-10141 No, not counted
donkey Equus asinus OMIA:000202-9793 No, not counted
Fejervarya kawamurai Fejervarya kawamurai OMIA:000202-1772025 No, not counted
four-striped grass mouse Genetically engineered, not naturally occurring. Not counted in the score. Rhabdomys pumilio OMIA:000202-121573 No, not counted
golden hamster Mesocricetus auratus OMIA:000202-10036 Unknown, not counted
hamadryas baboon Papio hamadryas OMIA:000202-9557 No, not counted
humpback whale Megaptera novaeangliae OMIA:000202-9773 Yes
Japanese medaka Oryzias latipes OMIA:000202-8090 Yes
Japanese ratsnake Elaphe climacophora OMIA:000202-31143 Yes
Japanese wrinkled frog Glandirana rugosa OMIA:000202-8410 No, not counted
lion Panthera leo OMIA:000202-9689 No, not counted
marine toad Genetically engineered, not naturally occurring. Not counted in the score. Rhinella marina OMIA:000202-8386 Yes
Mongolian gerbil Meriones unguiculatus OMIA:000202-10047 No, not counted
Nyctereutes viverrinus Nyctereutes viverrinus OMIA:000202-3370412 Yes
Paroedura picta Genetically engineered, not naturally occurring. Not counted in the score. Paroedura picta OMIA:000202-143630 Unknown, not counted
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:000202-9823 No, not counted
rabbit Oryctolagus cuniculus OMIA:000202-9986 Yes
red deer Cervus elaphus OMIA:000202-9860 No, not counted
red fox Vulpes vulpes OMIA:000202-9627 Yes
red-necked wallaby Notamacropus rufogriseus OMIA:000202-1960652 Yes
Rhesus monkey Macaca mulatta OMIA:000202-9544 Yes
thirteen-lined ground squirrel Genetically engineered, not naturally occurring. Not counted in the score. Ictidomys tridecemlineatus OMIA:000202-43179 Unknown, not counted
tufted capuchin Sapajus apella OMIA:000202-9515 Yes
water buffalo Bubalus bubalis OMIA:000202-89462 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
American mink TYR NCBI Gene 122912503 TYR Ensembl one to one
axolotl TYR NCBI Gene 138528009 Ensembl has no gene cross-references for this species.
dog TYR tyrosinase NCBI Gene 403405 TYR Ensembl one to one
domestic cat TYR tyrosinase NCBI Gene 751100 TYR Ensembl one to one
domestic cattle TYR tyrosinase NCBI Gene 280951 TYR Ensembl one to one
domestic ferret TYR tyrosinase NCBI Gene 101683509 TYR Ensembl one to one
humpback whale TYR No NCBI Gene identifier in OMIA.
Japanese medaka tyr tyrosinase NCBI Gene 100049427 TYR Ensembl one to many
Japanese ratsnake TYR No NCBI Gene identifier in OMIA.
marine toad TYR No NCBI Gene identifier in OMIA.
Nyctereutes viverrinus TYR No NCBI Gene identifier in OMIA.
rabbit TYR tyrosinase NCBI Gene 100008753 Ensembl does not know this NCBI Gene identifier.
red fox TYR NCBI Gene 112932288 TYR Ensembl one to one
red-necked wallaby TYR tyrosinase The gene belongs to a different species than the entry.
Rhesus monkey TYR tyrosinase NCBI Gene 705792 TYR Ensembl one to one
tufted capuchin TYR NCBI Gene 116563217 Ensembl has no gene cross-references for this species.
water buffalo TYR tyrosinase NCBI Gene 102408280 Ensembl has no gene cross-references for this species.
American bison Not a defect, not counted TYR tyrosinase NCBI Gene 104993808 Ensembl has no gene cross-references for this species.
ball python Not a defect, not counted No gene OMIA records no gene for this species entry.
dark-spotted frog Not a defect, not counted TYR No NCBI Gene identifier in OMIA.
domestic guinea pig Not a defect, not counted Tyr tyrosinase NCBI Gene 100713552 TYR Ensembl one to one
donkey Not a defect, not counted TYR tyrosinase NCBI Gene 106822679 TYR Ensembl one to one
Fejervarya kawamurai Not a defect, not counted TYR No NCBI Gene identifier in OMIA.
four-striped grass mouse Not a defect, not counted No gene OMIA records no gene for this species entry.
golden hamster Not a defect, not counted No gene OMIA records no gene for this species entry.
hamadryas baboon Not a defect, not counted TYR No NCBI Gene identifier in OMIA.
Japanese wrinkled frog Not a defect, not counted TYR No NCBI Gene identifier in OMIA.
lion Not a defect, not counted TYR NCBI Gene 122200032 Ensembl does not know this NCBI Gene identifier.
Mongolian gerbil Not a defect, not counted Tyr NCBI Gene 110565894 Ensembl has no gene cross-references for this species.
Paroedura picta Not a defect, not counted No gene OMIA records no gene for this species entry.
pig Not a defect, not counted TYR tyrosinase NCBI Gene 407745 TYR Ensembl one to one
red deer Not a defect, not counted TYR NCBI Gene 122676922 Ensembl has no gene cross-references for this species.
thirteen-lined ground squirrel Not a defect, not counted Tyr tyrosinase NCBI Gene 101963196 TYR 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:0008745 oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. OMIA's OMIM numbers
MONDO:0011749 oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. 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
TYR oculocutaneous albinism type 1A 0.85 485 Genetic association 0.95 Genetic literature 0.82 Animal model 0.69 Literature 0.10
TYR oculocutaneous albinism type 1B 0.82 321 Genetic association 0.91 Genetic literature 0.81 Animal model 0.68 Literature 0.09

Drugs

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

Drug Acts on How Latest stage Tested for this disease
Arbutin TYR inhibitor Approved No
Monobenzone TYR inhibitor Approved No
Mequinol TYR inhibitor Unknown No

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