aplasia involving bones of the extremities Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009825
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Genes

336 genes associated with the aplasia involving bones of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
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
ADNP activity-dependent neuroprotector homeobox
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
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B2M beta-2-microglobulin
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
BCOR BCL6 corepressor
BCR breakpoint cluster region
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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CD96 CD96 molecule
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CTC1 CTS telomere maintenance complex component 1
CTNND2 catenin (cadherin-associated protein), delta 2
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLX3 distal-less homeobox 3
DLX5 distal-less homeobox 5
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FBXW4 F-box and WD repeat domain containing 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
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
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GGCX gamma-glutamyl carboxylase
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HYLS1 hydrolethalus syndrome 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
IRX5 iroquois homeobox 5
JAG1 jagged 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
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAPK1 mitogen-activated protein kinase 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
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGLY1 N-glycanase 1
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
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
P3H1 prolyl 3-hydroxylase 1
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
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
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
PUF60 poly-U binding splicing factor 60KDa
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)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
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
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL26 ribosomal protein L26
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
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
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
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
SNIP1 Smad nuclear interacting protein 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)
STAMBP STAM binding protein
STX16 syntaxin 16
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
TBC1D24 TBC1 domain family, member 24
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
TBX5 T-box 5
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
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
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC15 zinc finger, DHHC-type containing 15
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24