abnormal cartilage collagen Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. (Human Phenotype Ontology, HP_0008271)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008271
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1 genes associated with the abnormal cartilage collagen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL2A1 collagen, type II, alpha 1