abnormality of the ilium Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the ilium, the largest and uppermost bone of the pelvis. (Human Phenotype Ontology, HP_0002867)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002867
Similar Terms
Downloads & Tools

Genes

50 genes associated with the abnormality of the ilium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARSB arylsulfatase B
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CCBE1 collagen and calcium binding EGF domains 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPC3 glypican 3
HDAC6 histone deacetylase 6
IDUA iduronidase, alpha-L-
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
LIFR leukemia inhibitory factor receptor alpha
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PTH1R parathyroid hormone 1 receptor
RAB23 RAB23, member RAS oncogene family
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SEC23A Sec23 homolog A (S. cerevisiae)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMAD4 SMAD family member 4
SOX9 SRY (sex determining region Y)-box 9
TBX15 T-box 15
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRAPPC2 trafficking protein particle complex 2
WDR19 WD repeat domain 19
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB20 zinc finger and BTB domain containing 20