hypoplastic ilia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the ilium. (Human Phenotype Ontology, HP_0000946)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000946
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Genes

31 genes associated with the hypoplastic ilia 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
DYM dymeclin
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
GATA1 GATA binding protein 1 (globin transcription factor 1)
HDAC6 histone deacetylase 6
IHH indian hedgehog
LIFR leukemia inhibitory factor receptor alpha
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
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
TRAPPC2 trafficking protein particle complex 2
WDR19 WD repeat domain 19
WNT7A wingless-type MMTV integration site family, member 7A