Pyle Metaphyseal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0265294
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Genes

24 genes associated with the disease Pyle Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ANKH ANKH inorganic pyrophosphate transport regulator
C21ORF2 chromosome 21 open reading frame 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
EPDR1 ependymin related 1
EXTL3 exostosin-like glycosyltransferase 3
GJA1 gap junction protein, alpha 1, 43kDa
LONP1 lon peptidase 1, mitochondrial
MARCKSL1 MARCKS-like 1
NKX3-2 NK3 homeobox 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
POLE polymerase (DNA directed), epsilon, catalytic subunit
POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
PTH1R parathyroid hormone 1 receptor
RSPRY1 ring finger and SPRY domain containing 1
RUNX2 runt-related transcription factor 2
SFRP4 secreted frizzled-related protein 4
TGFB1 transforming growth factor, beta 1
TMEM165 transmembrane protein 165
TRIP11 thyroid hormone receptor interactor 11
UFSP2 UFM1-specific peptidase 2
WLS wntless Wnt ligand secretion mediator