Micromelia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of abnormally small extremities. (Human Phenotype Ontology, HP_0002983)
External Link https://www.disgenet.org/browser/0/1/0/C0025995
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Genes

102 genes associated with the disease Micromelia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACTB actin, beta
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ALPL alkaline phosphatase, liver/bone/kidney
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GLCT beta 3-glucosyltransferase
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP120 centrosomal protein 120kDa
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
DDRGK1 DDRGK domain containing 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DONSON downstream neighbor of SON
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOC6B exocyst complex component 6B
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FN1 fibronectin 1
FZD2 frizzled class receptor 2
GDF5 growth differentiation factor 5
GLI1 GLI family zinc finger 1
GLI3 GLI family zinc finger 3
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
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IFT81 intraflagellar transport 81
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
KIAA0586 KIAA0586
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LRP4 low density lipoprotein receptor-related protein 4
MATN3 matrilin 3
NBAS neuroblastoma amplified sequence
NIPBL Nipped-B homolog (Drosophila)
OBSL1 obscurin-like 1
PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae)
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PHGDH phosphoglycerate dehydrogenase
POLE polymerase (DNA directed), epsilon, catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
PUF60 poly-U binding splicing factor 60KDa
RAD21 RAD21 homolog (S. pombe)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETD5 SET domain containing 5
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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TCTN3 tectonic family member 3
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
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A