aplasia/hypoplasia involving the vertebral column Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008518
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Genes

36 genes associated with the aplasia/hypoplasia involving the vertebral column phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ARSB arylsulfatase B
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FANCB Fanconi anemia, complementation group B
FGD1 FYVE, RhoGEF and PH domain containing 1
FLNB filamin B, beta
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GALNS galactosamine (N-acetyl)-6-sulfatase
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GUSB glucuronidase, beta
IDUA iduronidase, alpha-L-
INPPL1 inositol polyphosphate phosphatase-like 1
LBR lamin B receptor
MNX1 motor neuron and pancreas homeobox 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NSDHL NAD(P) dependent steroid dehydrogenase-like
POC1A POC1 centriolar protein A
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB33B RAB33B, member RAS oncogene family
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SUMF1 sulfatase modifying factor 1
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VANGL1 VANGL planar cell polarity protein 1