Comparative

Human gene

COL6A3 collagen type VI alpha 3

ENSG00000163359 on Ensembl

2 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
2260 Lethality, COL6A3-related domestic cattle COL6A3 one to one Drug 58.2
for dystonia 27
2274 Muscular dystrophy, Ullrich type, COL6A3-related dog COL6A3 one to one Drug 56.1
for Ullrich congenital muscular dystrophy 1A

Target evidence

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

Human disease Mondo Score Evidence
dystonia 27 MONDO:0014627 0.76 109
Bethlem myopathy 1A MONDO:0024530 0.71 3,149
Ullrich congenital muscular dystrophy 1A MONDO:0009681 0.70 96

Drugs

Each ChEMBL drug that acts on this gene.

Drug How Latest stage
Collagenase Clostridium Histolyticum hydrolytic enzyme Approved
Ocriplasmin hydrolytic enzyme Approved

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