aplasia/hypoplasia involving bones of the lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. (Human Phenotype Ontology, HP_0006493)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006493
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Genes

208 genes associated with the aplasia/hypoplasia involving bones of the lower limbs 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
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGPS alkylglycerone phosphate synthase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BHLHA9 basic helix-loop-helix family, member a9
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COMP cartilage oligomeric matrix protein
CTC1 CTS telomere maintenance complex component 1
CTSK cathepsin K
CUL4B cullin 4B
DCHS1 dachsous cadherin-related 1
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HOXA13 homeobox A13
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KIF22 kinesin family member 22
KMT2A lysine (K)-specific methyltransferase 2A
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LMX1B LIM homeobox transcription factor 1, beta
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATN3 matrilin 3
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP9 matrix metallopeptidase 9
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NGLY1 N-glycanase 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PDE4D phosphodiesterase 4D, cAMP-specific
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX1 paired-like homeodomain 1
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTHLH parathyroid hormone-like hormone
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
SPG20 spastic paraplegia 20 (Troyer syndrome)
SULF1 sulfatase 1
TBCE tubulin folding cofactor E
TBX15 T-box 15
TBX2 T-box 2
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TCTN3 tectonic family member 3
TP63 tumor protein p63
TRAPPC2 trafficking protein particle complex 2
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR81 WD repeat domain 81
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16
ZDHHC15 zinc finger, DHHC-type containing 15