abnormal cartilage morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of cartilage. (Human Phenotype Ontology, HP_0002763)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002763
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Genes

17 genes associated with the abnormal cartilage morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACP5 acid phosphatase 5, tartrate resistant
ANKH ANKH inorganic pyrophosphate transport regulator
COL2A1 collagen, type II, alpha 1
DDR2 discoidin domain receptor tyrosine kinase 2
HGD homogentisate 1,2-dioxygenase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
MGP matrix Gla protein
PEX5 peroxisomal biogenesis factor 5
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SLC26A2 solute carrier family 26 (anion exchanger), member 2
TCOF1 Treacher Collins-Franceschetti syndrome 1
ZBTB20 zinc finger and BTB domain containing 20