abnormality of the vertebral column Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the vertebral column. (Human Phenotype Ontology, HP_0000925)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000925
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Genes

697 genes associated with the abnormality of the vertebral column phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ACVR1 activin A receptor, type I
ADA adenosine deaminase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDOA aldolase A, fructose-bisphosphate
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APTX aprataxin
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
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
BDNF brain-derived neurotrophic factor
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BLM Bloom syndrome, RecQ helicase-like
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C5ORF42 chromosome 5 open reading frame 42
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDKL5 cyclin-dependent kinase-like 5
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNTN4 contactin 4
COG1 component of oligomeric golgi complex 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
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNND2 catenin (cadherin-associated protein), delta 2
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCHS1 dachsous cadherin-related 1
DDHD1 DDHD domain containing 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DUX4 double homeobox 4
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FAM20C family with sequence similarity 20, member C
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
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNS galactosamine (N-acetyl)-6-sulfatase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GOSR2 golgi SNAP receptor complex member 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPX4 glutathione peroxidase 4
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
HK1 hexokinase 1
HMGA2 high mobility group AT-hook 2
HMGB3 high mobility group box 3
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFITM5 interferon induced transmembrane protein 5
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
IRF6 interferon regulatory factor 6
ITGA7 integrin, alpha 7
ITGA8 integrin, alpha 8
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 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
KCNK9 potassium channel, two pore domain subfamily K, member 9
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF5A kinesin family member 5A
KIF7 kinesin family member 7
KLHL41 kelch-like family member 41
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LZTFL1 leucine zipper transcription factor-like 1
MAMLD1 mastermind-like domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MNX1 motor neuron and pancreas homeobox 1
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MSX2 msh homeobox 2
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MVK mevalonate kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NEB nebulin
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NLRP1 NLR family, pyrin domain containing 1
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5E 5'-nucleotidase, ecto (CD73)
NTNG1 netrin G1
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX3 paired box 3
PAX6 paired box 6
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX7 peroxisomal biogenesis factor 7
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPIB peptidylprolyl isomerase B (cyclophilin B)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCSH protein kinase C substrate 80K-H
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTRF polymerase I and transcript release factor
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEC63 SEC63 homolog (S. cerevisiae)
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
SEPN1 selenoprotein N, 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
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
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPAST spastin
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRED1 sprouty-related, EVH1 domain containing 1
SQSTM1 sequestosome 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TBX6 T-box 6
TBXAS1 thromboxane A synthase 1 (platelet)
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
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)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TNXB tenascin XB
TOR1A torsin family 1, member A (torsin A)
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC11 trafficking protein particle complex 11
TRAPPC2 trafficking protein particle complex 2
TRAPPC9 trafficking protein particle complex 9
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TTPA tocopherol (alpha) transfer protein
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
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
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNT1 wingless-type MMTV integration site family, member 1
WNT3 wingless-type MMTV integration site family, member 3
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
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZSWIM6 zinc finger, SWIM-type containing 6