Comparative

Human gene

MITF microphthalmia-associated transcription factor

ENSG00000187098 on Ensembl

5 disease groups in OMIA reach this gene, through the animal gene that Ensembl gives as its ortholog. The page shows the chain. It does not say whether an animal is a model of a human disease.

Animal diseases

By each group's best natural-model score, highest first. How the score works.

OMIA group Name Species Animal gene Ortholog The chain reached Best score
1401 Waardenburg syndrome, type 2A golden hamster MITF one to one Target evidence 60.1
for Waardenburg syndrome type 2A
1401 Waardenburg syndrome, type 2A pig MITF one to one Target evidence 60.1
for Waardenburg syndrome type 2A
1680 Coat colour, dominant white with bilateral deafness American mink MITF one to one Target evidence 59.0
for Tietz syndrome
1680 Coat colour, dominant white with bilateral deafness domestic cattle MITF one to one Target evidence 59.0
for Tietz syndrome
214 Coat colour, white spotting horse MITF one to one Target evidence 57.1
for Waardenburg syndrome type 2A
1931 Depigmentation associated with microphthalmia domestic cattle MITF one to one Target evidence 57.1
for Waardenburg syndrome type 2A
755 Osteopetrosis Japanese quail MITF one to one Target evidence 37.0
for autosomal recessive osteopetrosis 2

Target evidence

Each Open Targets association between this gene and a human disease that a disease group reached.

Human disease Mondo Score Evidence
Waardenburg syndrome type 2A MONDO:0008671 0.80 1,154
Tietz syndrome MONDO:0007077 0.77 1,135
autosomal recessive osteopetrosis 2 MONDO:0009816 0.06 5
autosomal recessive osteopetrosis 3 MONDO:0009818 0.05 4
autosomal recessive osteopetrosis 1 MONDO:0009815 0.05 3
infantile osteopetrosis with neuroaxonal dysplasia MONDO:0010866 0.03 1

Drugs

Each ChEMBL drug that acts on this gene.

No ChEMBL drug acts on this gene, among the genes with target evidence.