aplasia/hypoplasia of the ribs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006712
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Genes

50 genes associated with the aplasia/hypoplasia of the ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPER BMP binding endothelial regulator
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HDAC6 histone deacetylase 6
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IHH indian hedgehog
KIAA0196 KIAA0196
LBR lamin B receptor
LMX1B LIM homeobox transcription factor 1, beta
NEK1 NIMA-related kinase 1
NKX3-2 NK3 homeobox 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
PTCH2 patched 2
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
TRIP11 thyroid hormone receptor interactor 11
TTC21B tetratricopeptide repeat domain 21B
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60