metaphyseal irregularity Gene Set
Genes
19 genes associated with the metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ARSB
|
arylsulfatase B
|
|
CASR
|
calcium-sensing receptor
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DYM
|
dymeclin
|
|
KIF22
|
kinesin family member 22
|
|
MATN3
|
matrilin 3
|
|
MMP9
|
matrix metallopeptidase 9
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
