disproportionate short-limb short stature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. (Human Phenotype Ontology, HP_0008873)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008873
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Genes

49 genes associated with the disproportionate short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AGPS alkylglycerone phosphate synthase
ALPL alkaline phosphatase, liver/bone/kidney
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
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
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR24 24-dehydrocholesterol reductase
DYM dymeclin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
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
HSPG2 heparan sulfate proteoglycan 2
IFT122 intraflagellar transport 122
IFT80 intraflagellar transport 80
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
LBR lamin B receptor
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
P3H1 prolyl 3-hydroxylase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEX7 peroxisomal biogenesis factor 7
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SHOX short stature homeobox
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX9 SRY (sex determining region Y)-box 9
TBX15 T-box 15
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A