abnormal morphology of bones of the lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0040066
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Genes

82 genes associated with the abnormal morphology of bones of the lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPS alkylglycerone phosphate synthase
AMER1 APC membrane recruitment protein 1
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
CANT1 calcium activated nucleotidase 1
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CLCN5 chloride channel, voltage-sensitive 5
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPC6 glypican 6
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IHH indian hedgehog
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MMP13 matrix metallopeptidase 13
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NPR2 natriuretic peptide receptor 2
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PHEX phosphate regulating endopeptidase homolog, X-linked
PHYH phytanoyl-CoA 2-hydroxylase
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POC1A POC1 centriolar protein A
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTHLH parathyroid hormone-like hormone
RAB33B RAB33B, member RAS oncogene family
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SALL1 spalt-like transcription factor 1
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
TBX4 T-box 4
TCTN3 tectonic family member 3
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR19 WD repeat domain 19
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16