abnormal cartilage morphology Gene Set
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
|
