micromelia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of abnormally small extremities. (Human Phenotype Ontology, HP_0002983)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002983
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Genes

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

Symbol Name
ACAN aggrecan
ACTB actin, beta
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ALPL alkaline phosphatase, liver/bone/kidney
ANTXR2 anthrax toxin receptor 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BMPR1B bone morphogenetic protein receptor, type IB
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GPC6 glypican 6
HDAC8 histone deacetylase 8
HHAT hedgehog acyltransferase
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IHH indian hedgehog
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LRP4 low density lipoprotein receptor-related protein 4
MATN3 matrilin 3
MPST mercaptopyruvate sulfurtransferase
NBAS neuroblastoma amplified sequence
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NPR2 natriuretic peptide receptor 2
OBSL1 obscurin-like 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PHGDH phosphoglycerate dehydrogenase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
RAD21 RAD21 homolog (S. pombe)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
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
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SULF1 sulfatase 1
TCTN3 tectonic family member 3
TRAPPC2 trafficking protein particle complex 2
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A