platyspondyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A flattened vertebral body shape with reduced distance between the vertebral endplates. (Human Phenotype Ontology, HP_0000926)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000926
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ADA adenosine deaminase
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
ALPL alkaline phosphatase, liver/bone/kidney
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMP1 bone morphogenetic protein 1
CANT1 calcium activated nucleotidase 1
COL10A1 collagen, type X, alpha 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
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GLB1 galactosidase, beta 1
GORAB golgin, RAB6-interacting
GPX4 glutathione peroxidase 4
GUSB glucuronidase, beta
HDAC6 histone deacetylase 6
HSPG2 heparan sulfate proteoglycan 2
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFITM5 interferon induced transmembrane protein 5
INPPL1 inositol polyphosphate phosphatase-like 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF22 kinesin family member 22
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP5 low density lipoprotein receptor-related protein 5
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP13 matrix metallopeptidase 13
OCRL oculocerebrorenal syndrome of Lowe
P3H1 prolyl 3-hydroxylase 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PTH1R parathyroid hormone 1 receptor
PYCR1 pyrroline-5-carboxylate reductase 1
RAB33B RAB33B, member RAS oncogene family
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1