abnormal axial skeleton morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. (Human Phenotype Ontology, HP_0009121)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002114
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Genes

773 gene mutations causing the abnormal axial skeleton morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAN aggrecan
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACVR1 activin A receptor, type I
ACVR2A activin A receptor, type IIA
ACVR2B activin A receptor, type IIB
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AFF3 AF4/FMR2 family, member 3
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
AMBN ameloblastin (enamel matrix protein)
AMELY amelogenin, Y-linked
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANKRD13A ankyrin repeat domain 13A
ANO6 anoctamin 6
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANTXR1 anthrax toxin receptor 1
ANXA1 annexin A1
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
ARHGAP1 Rho GTPase activating protein 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL4D ADP-ribosylation factor-like 4D
ARL6 ADP-ribosylation factor-like 6
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ARSB arylsulfatase B
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ATF4 activating transcription factor 4
ATMIN ATM interactor
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATXN1 ataxin 1
ATXN1L ataxin 1-like
ATXN7 ataxin 7
AXIN1 axin 1
AXIN2 axin 2
BAG3 BCL2-associated athanogene 3
BARX2 BARX homeobox 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BLZF1 basic leucine zipper nuclear factor 1
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP6 bone morphogenetic protein 6
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
BRDT bromodomain, testis-specific
BTG2 BTG family, member 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF120 chromosome 10 open reading frame 120
C21ORF62 chromosome 21 open reading frame 62
C5ORF42 chromosome 5 open reading frame 42
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CBFB core-binding factor, beta subunit
CBX2 chromobox homolog 2
CBX5 chromobox homolog 5
CCDC39 coiled-coil domain containing 39
CCND1 cyclin D1
CCR10 chemokine (C-C motif) receptor 10
CDC14B cell division cycle 14B
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDO1 cysteine dioxygenase type 1
CDON cell adhesion associated, oncogene regulated
CDX1 caudal type homeobox 1
CDX2 caudal type homeobox 2
CDX4 caudal type homeobox 4
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPJ centromere protein J
CEP290 centrosomal protein 290kDa
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCN1 chloride channel, voltage-sensitive 1
CLCN3 chloride channel, voltage-sensitive 3
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLEC3B C-type lectin domain family 3, member B
CLP1 cleavage and polyadenylation factor I subunit 1
CLU clusterin
CLUAP1 clusterin associated protein 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTNAP1 contactin associated protein 1
COA5 cytochrome c oxidase assembly factor 5
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A2 collagen, type V, alpha 2
COMMD3-BMI1 COMMD3-BMI1 readthrough
CREB3L1 cAMP responsive element binding protein 3-like 1
CREB3L2 cAMP responsive element binding protein 3-like 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CSRNP1 cysteine-serine-rich nuclear protein 1
CSRP2BP CSRP2 binding protein
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTSK cathepsin K
CYCS cytochrome c, somatic
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DAAM2 dishevelled associated activator of morphogenesis 2
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DCTN5 dynactin 5 (p25)
DDR1 discoidin domain receptor tyrosine kinase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DEAF1 DEAF1 transcription factor
DERL2 derlin 2
DHRS3 dehydrogenase/reductase (SDR family) member 3
DIAPH1 diaphanous-related formin 1
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG1 discs, large homolog 1 (Drosophila)
DLK1 delta-like 1 homolog (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DMRT2 doublesex and mab-3 related transcription factor 2
DMRT3 doublesex and mab-3 related transcription factor 3
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNASE1L2 deoxyribonuclease I-like 2
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPH1 diphthamide biosynthesis 1
DPPA4 developmental pluripotency associated 4
DRC1 dynein regulatory complex subunit 1
DSCAM Down syndrome cell adhesion molecule
DSCC1 DNA replication and sister chromatid cohesion 1
DUSP3 dual specificity phosphatase 3
DUSP4 dual specificity phosphatase 4
DUSP6 dual specificity phosphatase 6
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
E2F4 E2F transcription factor 4, p107/p130-binding
E2F5 E2F transcription factor 5, p130-binding
E2F6 E2F transcription factor 6
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFNA1 ephrin-A1
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EGR3 early growth response 3
EHD1 EH-domain containing 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4H eukaryotic translation initiation factor 4H
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERF Ets2 repressor factor
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
ESR1 estrogen receptor 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 1
EXOC3L2 exocyst complex component 3-like 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM134C family with sequence similarity 134, member C
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBN1 fibrillin 1
FBXO11 F-box protein 11
FBXO45 F-box protein 45
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FIGN fidgetin
FKBP8 FK506 binding protein 8, 38kDa
FKRP fukutin related protein
FLNA filamin A, alpha
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
FOXG1 forkhead box G1
FOXI1 forkhead box I1
FOXI3 forkhead box I3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FSHR follicle stimulating hormone receptor
FST follistatin
FSTL1 follistatin-like 1
FTO fat mass and obesity associated
FUOM fucose mutarotase
FUZ fuzzy planar cell polarity protein
FZD9 frizzled class receptor 9
GAA glucosidase, alpha; acid
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAS1 growth arrest-specific 1
GATA3 GATA binding protein 3
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBX2 gastrulation brain homeobox 2
GDF11 growth differentiation factor 11
GDF6 growth differentiation factor 6
GGT1 gamma-glutamyltransferase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLCE glucuronic acid epimerase
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPR87 G protein-coupled receptor 87
GRB2 growth factor receptor-bound protein 2
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HAND2 heart and neural crest derivatives expressed 2
HAPLN1 hyaluronan and proteoglycan link protein 1
HAT1 histone acetyltransferase 1
HDAC2 histone deacetylase 2
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HELLS helicase, lymphoid-specific
HES7 hes family bHLH transcription factor 7
HFM Hemifacial microsomia
HHAT hedgehog acyltransferase
HIC1 hypermethylated in cancer 1
HIP1 huntingtin interacting protein 1
HMX1 H6 family homeobox 1
HOXA1 homeobox A1
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXA9 homeobox A9
HOXB13 homeobox B13
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
HOXC10 homeobox C10
HOXC13 homeobox C13
HOXC4 homeobox C4
HOXC6 homeobox C6
HOXC8 homeobox C8
HOXC9 homeobox C9
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD11 homeobox D11
HOXD13 homeobox D13
HOXD3 homeobox D3
HOXD4 homeobox D4
HOXD8 homeobox D8
HOXD9 homeobox D9
HRAS Harvey rat sarcoma viral oncogene homolog
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
HYAL2 hyaluronoglucosaminidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IFT27 intraflagellar transport 27
IFT57 intraflagellar transport 57
IFT80 intraflagellar transport 80
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IHH indian hedgehog
IL10 interleukin 10
IL12B interleukin 12B
IL4 interleukin 4
IMPAD1 inositol monophosphatase domain containing 1
INHA inhibin, alpha
INHBA inhibin, beta A
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
IRAK3 interleukin-1 receptor-associated kinase 3
IREB2 iron-responsive element binding protein 2
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB1BP1 integrin beta 1 binding protein 1
ITPK1 inositol-tetrakisphosphate 1-kinase
JAG2 jagged 2
JAM3 junctional adhesion molecule 3
JARID2 jumonji, AT rich interactive domain 2
JMJD1C jumonji domain containing 1C
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM4B lysine (K)-specific demethylase 4B
KDM6A lysine (K)-specific demethylase 6A
KDM7A lysine (K)-specific demethylase 7A
KIAA1217 KIAA1217
KIF14 kinesin family member 14
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KL klotho
KLF2 Kruppel-like factor 2
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA5 laminin, alpha 5
LARGE like-glycosyltransferase
LASP1 LIM and SH3 protein 1
LBR lamin B receptor
LEF1 lymphoid enhancer-binding factor 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LPAR4 lysophosphatidic acid receptor 4
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MAPK6 mitogen-activated protein kinase 6
MARCKS myristoylated alanine-rich protein kinase C substrate
MAST4 microtubule associated serine/threonine kinase family member 4
MBNL2 muscleblind-like splicing regulator 2
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBTD1 mbt domain containing 1
MDFI MyoD family inhibitor
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED31 mediator complex subunit 31
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MN1 meningioma (disrupted in balanced translocation) 1
MNT MAX network transcriptional repressor
MSGN1 mesogenin 1
MSI1 musashi RNA-binding protein 1
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MTA1 metastasis associated 1
MTA2 metastasis associated 1 family, member 2
MTF2 metal response element binding transcription factor 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYH10 myosin, heavy chain 10, non-muscle
MYOG myogenin (myogenic factor 4)
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP2 nucleic acid binding protein 2
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NCDN neurochondrin
NDC1 NDC1 transmembrane nucleoporin
NDRG2 NDRG family member 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEB nebulin
NEK1 NIMA-related kinase 1
NELL1 NEL-like 1 (chicken)
NEU1 sialidase 1 (lysosomal sialidase)
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKD1 naked cuticle homolog 1 (Drosophila)
NKX3-2 NK3 homeobox 2
NME5 NME/NM23 family member 5
NME7 NME/NM23 family member 7
NOG noggin
NOTCH1 notch 1
NOTCH3 notch 3
NOTO notochord homeobox
NOV nephroblastoma overexpressed
NPHP3 nephronophthisis 3 (adolescent)
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRARP NOTCH-regulated ankyrin repeat protein
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NXN nucleoredoxin
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
OSTM1 osteopetrosis associated transmembrane protein 1
OTULIN OTU deubiquitinase with linear linkage specificity
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAPPA2 pappalysin 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARL presenilin associated, rhomboid-like
PAX1 paired box 1
PAX3 paired box 3
PAX6 paired box 6
PAX7 paired box 7
PAX8 paired box 8
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PC pyruvate carboxylase
PCGF2 polycomb group ring finger 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEX11B peroxisomal biogenesis factor 11 beta
PEX2 peroxisomal biogenesis factor 2
PEX3 peroxisomal biogenesis factor 3
PFAS phosphoribosylformylglycinamidine synthase
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF14 PHD finger protein 14
PHF20 PHD finger protein 20
PHOSPHO1 phosphatase, orphan 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAGL1 pleiomorphic adenoma gene-like 1
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLP1 proteolipid protein 1
PLXND1 plexin D1
PNN pinin, desmosome associated protein
POFUT1 protein O-fucosyltransferase 1
POLG polymerase (DNA directed), gamma
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
PPIB peptidylprolyl isomerase B (cyclophilin B)
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
PRKD3 protein kinase D3
PRKG2 protein kinase, cGMP-dependent, type II
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSAP prosaposin
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTCH1 patched 1
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PYGO2 pygopus family PHD finger 2
PYY peptide YY
QRFPR pyroglutamylated RFamide peptide receptor
RAB23 RAB23, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RB1 retinoblastoma 1
RC3H1 ring finger and CCCH-type domains 1
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RGMA repulsive guidance molecule family member a
RING1 ring finger protein 1
RIPPLY1 ripply transcriptional repressor 1
RIPPLY2 ripply transcriptional repressor 2
RLBP1 retinaldehyde binding protein 1
RND3 Rho family GTPase 3
RNF2 ring finger protein 2
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RSPO2 R-spondin 2
RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
RUNX2 runt-related transcription factor 2
RUNX3 runt-related transcription factor 3
RXRA retinoid X receptor, alpha
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SAFB scaffold attachment factor B
SALL4 spalt-like transcription factor 4
SAMD4A sterile alpha motif domain containing 4A
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCHIP1 schwannomin interacting protein 1
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCUBE1 signal peptide, CUB domain, EGF-like 1
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPN1 selenoprotein N, 1
SETD1A SET domain containing 1A
SETD5 SET domain containing 5
SETMAR SET domain and mariner transposase fusion gene
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3BP2 SH3-domain binding protein 2
SH3GL2 SH3-domain GRB2-like 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHROOM3 shroom family member 3
SIK3 SIK family kinase 3
SIM2 single-minded family bHLH transcription factor 2
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIRT7 sirtuin 7
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC25A30 solute carrier family 25, member 30
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC44A5 solute carrier family 44, member 5
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC3 structural maintenance of chromosomes 3
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMN1 survival of motor neuron 1, telomeric
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SMS spermine synthase
SMURF2 SMAD specific E3 ubiquitin protein ligase 2
SOCS7 suppressor of cytokine signaling 7
SOS1 son of sevenless homolog 1 (Drosophila)
SOSTDC1 sclerostin domain containing 1
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SP8 Sp8 transcription factor
SPEF2 sperm flagellar 2
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPNS2 spinster homolog 2 (Drosophila)
SPRY4 sprouty homolog 4 (Drosophila)
SQSTM1 sequestosome 1
SRA1 steroid receptor RNA activator 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SSBP3 single stranded DNA binding protein 3
STAG1 stromal antigen 1
STARD5 StAR-related lipid transfer (START) domain containing 5
STK36 serine/threonine kinase 36
SUCO SUN domain containing ossification factor
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
SULF2 sulfatase 2
SUMF1 sulfatase modifying factor 1
SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
SYTL1 synaptotagmin-like 1
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TACC3 transforming, acidic coiled-coil containing protein 3
TAPT1 transmembrane anterior posterior transformation 1
TASP1 taspase, threonine aspartase, 1
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TBX22 T-box 22
TBX6 T-box 6
TCF15 transcription factor 15 (basic helix-loop-helix)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TENM4 teneurin transmembrane protein 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TGIF1 TGFB-induced factor homeobox 1
THBS1 thrombospondin 1
THBS2 thrombospondin 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast)
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM107 transmembrane protein 107
TMEM67 transmembrane protein 67
TMEM8C transmembrane protein 8C
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOM1L2 target of myb1-like 2 (chicken)
TOP2B topoisomerase (DNA) II beta 180kDa
TP53 tumor protein p53
TP53BP2 tumor protein p53 binding protein 2
TP63 tumor protein p63
TP73 tumor protein p73
TRAF4 TNF receptor-associated factor 4
TRAFD1 TRAF-type zinc finger domain containing 1
TRIP11 thyroid hormone receptor interactor 11
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TTC21B tetratricopeptide repeat domain 21B
TTN titin
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
TYRP1 tyrosinase-related protein 1
UBA2 ubiquitin-like modifier activating enzyme 2
UBE3B ubiquitin protein ligase E3B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNCX UNC homeobox
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VANGL2 VANGL planar cell polarity protein 2
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WNT9A wingless-type MMTV integration site family, member 9A
XBP1 X-box binding protein 1
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
XYLT1 xylosyltransferase I
YBX1 Y box binding protein 1
ZBTB16 zinc finger and BTB domain containing 16
ZC3HC1 zinc finger, C3HC-type containing 1
ZDHHC13 zinc finger, DHHC-type containing 13
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24
ZNF521 zinc finger protein 521