short ribs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced rib length. (Human Phenotype Ontology, HP_0000773)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000773
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Genes

38 genes associated with the short 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
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
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IHH indian hedgehog
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
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
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