neoplasm of the skeletal system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A tumor (abnormal growth of tissue) of the skeleton. (Human Phenotype Ontology, HP_0010622)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010622
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Genes

48 genes associated with the neoplasm of the skeletal system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALX4 ALX homeobox 4
APC adenomatous polyposis coli
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CHEK2 checkpoint kinase 2
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
GNAS GNAS complex locus
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
LMX1B LIM homeobox transcription factor 1, beta
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTAP methylthioadenosine phosphorylase
NOTCH3 notch 3
NR4A3 nuclear receptor subfamily 4, group A, member 3
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PHF21A PHD finger protein 21A
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPS19 ribosomal protein S19
SH3BP2 SH3-domain binding protein 2
SHOX short stature homeobox
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFG TRK-fused gene
TP53 tumor protein p53
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
WRN Werner syndrome, RecQ helicase-like