rhizomelia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). (Human Phenotype Ontology, HP_0008905)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008905
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Genes

29 genes associated with the rhizomelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AGPS alkylglycerone phosphate synthase
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COG1 component of oligomeric golgi complex 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
CRTAP cartilage associated protein
DHCR24 24-dehydrocholesterol reductase
DYM dymeclin
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GNPAT glyceronephosphate O-acyltransferase
GPC6 glypican 6
HDAC6 histone deacetylase 6
IFT122 intraflagellar transport 122
IFT80 intraflagellar transport 80
INPPL1 inositol polyphosphate phosphatase-like 1
LBR lamin B receptor
MMP13 matrix metallopeptidase 13
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEX7 peroxisomal biogenesis factor 7
RMRP RNA component of mitochondrial RNA processing endoribonuclease
TBX15 T-box 15
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A