Scoliosis, Unspecified Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0036439
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Genes

826 genes associated with the disease Scoliosis, Unspecified in GWAS and other genetic association datasets from the DisGeNET 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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACAN aggrecan
ACR acrosin
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTG1 actin gamma 1
ACTN3 actinin, alpha 3 (gene/pseudogene)
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAR adenosine deaminase, RNA-specific
ADGRG6 adhesion G protein-coupled receptor G6
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHI1 Abelson helper integration site 1
AHSG alpha-2-HS-glycoprotein
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ANO5 anoctamin 5
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APC adenomatous polyposis coli
APC2 adenomatosis polyposis coli 2
APTX aprataxin
AR androgen receptor
ARF1 ADP-ribosylation factor 1
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6
ARMC4 armadillo repeat containing 4
ARMC9 armadillo repeat containing 9
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ASXL3 additional sex combs like transcriptional regulator 3
ATAD3A ATPase family, AAA domain containing 3A
ATL1 atlastin GTPase 1
ATN1 atrophin 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2A3 ATPase, Ca++ transporting, ubiquitous
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
AUTS2 autism susceptibility candidate 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GLCT beta 3-glucosyltransferase
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BFSP2 beaded filament structural protein 2, phakinin
BGLAP bone gamma-carboxyglutamate (gla) protein
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMPR1B bone morphogenetic protein receptor, type IB
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C11ORF70 chromosome 11 open reading frame 70
C5ORF42 chromosome 5 open reading frame 42
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CANT1 calcium activated nucleotidase 1
CAPN1 calpain 1, (mu/I) large subunit
CAPN3 calpain 3, (p94)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CAVIN1 caveolae associated protein 1
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC151 coiled-coil domain containing 151
CCDC22 coiled-coil domain containing 22
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC6 coiled-coil domain containing 6
CCDC65 coiled-coil domain containing 65
CCDC8 coiled-coil domain containing 8
CCL2 chemokine (C-C motif) ligand 2
CCM2 cerebral cavernous malformation 2
CCNO cyclin O
CD38 CD38 molecule
CD96 CD96 molecule
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDK13 cyclin-dependent kinase 13
CDKL5 cyclin-dependent kinase-like 5
CDON cell adhesion associated, oncogene regulated
CENPE centromere protein E, 312kDa
CENPJ centromere protein J
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CFAP298 cilia and flagella associated protein 298
CFL2 cofilin 2 (muscle)
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLCN4 chloride channel, voltage-sensitive 4
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
COG1 component of oligomeric golgi complex 1
COG8 component of oligomeric golgi complex 8
COL12A1 collagen, type XII, 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
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
COLEC10 collectin sub-family member 10 (C-type lectin)
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
CPLX1 complexin 1
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CRP C-reactive protein, pentraxin-related
CRTAP cartilage associated protein
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding 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
CX3CL1 chemokine (C-X3-C motif) ligand 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCC DCC netrin 1 receptor
DCHS1 dachsous cadherin-related 1
DDHD1 DDHD domain containing 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DEAF1 DEAF1 transcription factor
DEGS1 delta(4)-desaturase, sphingolipid 1
DHCR7 7-dehydrocholesterol reductase
DISP1 dispatched homolog 1 (Drosophila)
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF4 dynein axonemal assembly factor 4
DNAAF5 dynein, axonemal, assembly factor 5
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNAL1 dynein, axonemal, light chain 1
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPF2 D4, zinc and double PHD fingers family 2
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPP6 dipeptidyl-peptidase 6
DRC1 dynein regulatory complex subunit 1
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EED embryonic ectoderm development
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFL1 elongation factor like GTPase 1
EFNB1 ephrin-B1
EGR2 early growth response 2
ELN elastin
ELP1 elongator acetyltransferase complex subunit 1
EMC1 ER membrane protein complex subunit 1
EMD emerin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
ERLIN2 ER lipid raft associated 2
ERMARD ER membrane-associated RNA degradation
ESR1 estrogen receptor 1
EXOC6B exocyst complex component 6B
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F9 coagulation factor IX
FAM120AOS family with sequence similarity 120A opposite strand
FAM126A family with sequence similarity 126, 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
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
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
FHL1 four and a half LIM domains 1
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT1 fibronectin leucine rich transmembrane protein 1
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXG1 forkhead box G1
FOXH1 forkhead box H1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
FZD2 frizzled class receptor 2
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
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
GAS1 growth arrest-specific 1
GAS2L2 growth arrest-specific 2 like 2
GAS8 growth arrest-specific 8
GATA6 GATA binding protein 6
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
GFAP glial fibrillary acidic protein
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GH1 growth hormone 1
GHR growth hormone receptor
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
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
GORAB golgin, RAB6-interacting
GOSR2 golgi SNAP receptor complex member 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GTPBP2 GTP binding protein 2
GUSB glucuronidase, beta
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HES7 hes family bHLH transcription factor 7
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIRA histone cell cycle regulator
HMGA2 high mobility group AT-hook 2
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HNRNPK heterogeneous nuclear ribonucleoprotein K
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1B interleukin 1, beta
IL6 interleukin 6
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPP5K inositol polyphosphate-5-phosphatase K
INPPL1 inositol polyphosphate phosphatase-like 1
IQSEC2 IQ motif and Sec7 domain 2
IRF6 interferon regulatory factor 6
ITGA7 integrin, alpha 7
ITGB6 integrin, beta 6
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KDM6A lysine (K)-specific demethylase 6A
KIAA0195 KIAA0195
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIF1A kinesin family member 1A
KIF22 kinesin family member 22
KIF5A kinesin family member 5A
KIF6 kinesin family member 6
KLC2 kinesin light chain 2
KLC4 kinesin light chain 4
KLHL41 kelch-like family member 41
KLLN killin, p53-regulated DNA replication inhibitor
KMT2B lysine (K)-specific methyltransferase 2B
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT8 keratin 8, type II
LAGE3 L antigen family, member 3
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LBX1 ladybird homeobox 1
LEMD3 LEM domain containing 3
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB2 lamin B2
LMOD3 leiomodin 3 (fetal)
LMX1B LIM homeobox transcription factor 1, beta
LONP1 lon peptidase 1, mitochondrial
LOX lysyl oxidase
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRRC56 leucine rich repeat containing 56
LRRC6 leucine rich repeat containing 6
LTBP4 latent transforming growth factor beta binding protein 4
LZTR1 leucine-zipper-like transcription regulator 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEL2 melanoma antigen family L2
MAP1B microtubule-associated protein 1B
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MAT2A methionine adenosyltransferase II, alpha
MATN1 matrilin 1, cartilage matrix protein
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCF2L MCF.2 cell line derived transforming sequence-like
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MCM3AP minichromosome maintenance complex component 3 associated protein
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MFAP5 microfibrillar associated protein 5
MFN2 mitofusin 2
MKRN3 makorin ring finger protein 3
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP3 matrix metallopeptidase 3
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRAS muscle RAS oncogene homolog
MRE11 MRE11 homolog, double strand break repair nuclease
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MT1A metallothionein 1A
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MTNR1A melatonin receptor 1A
MUSK muscle, skeletal, receptor tyrosine kinase
MYF5 myogenic factor 5
MYH11 myosin, heavy chain 11, smooth muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYLK myosin light chain kinase
MYOD1 myogenic differentiation 1
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NALCN sodium leak channel, non selective
NCAPG2 non-SMC condensin II complex, subunit G2
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NEB nebulin
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK9 NIMA-related kinase 9
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGLY1 N-glycanase 1
NHP2 NHP2 ribonucleoprotein
NKX6-2 NK6 homeobox 2
NME8 NME/NM23 family member 8
NODAL nodal growth differentiation factor
NONO non-POU domain containing, octamer-binding
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NPAP1 nuclear pore associated protein 1
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
NSD2 nuclear receptor binding SET domain protein 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTF3 neurotrophin 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUP88 nucleoporin 88kDa
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
NXN nucleoredoxin
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
ODAD1 outer dynein arm docking complex subunit 1
OFD1 oral-facial-digital syndrome 1
OTUD6B OTU domain containing 6B
P3H1 prolyl 3-hydroxylase 1
P4HB prolyl 4-hydroxylase, beta polypeptide
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
PACS1 phosphofurin acidic cluster sorting protein 1
PALB2 partner and localizer of BRCA2
PARN poly(A)-specific ribonuclease
PAX3 paired box 3
PAX6 paired box 6
PAX7 paired box 7
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDCD10 programmed cell death 10
PDE4D phosphodiesterase 4D, cAMP-specific
PEX6 peroxisomal biogenesis factor 6
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGM3 phosphoglucomutase 3
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIBF1 progesterone immunomodulatory binding factor 1
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGU phosphatidylinositol glycan anchor biosynthesis, class U
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIH1D3 PIH1 domain containing 3
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLK4 polo-like kinase 4
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMP22 peripheral myelin protein 22
PMPCA peptidase (mitochondrial processing) alpha
PODXL podocalyxin-like
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
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
PRKD1 protein kinase D1
PRKG1 protein kinase, cGMP-dependent, type I
PRL prolactin
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRUNE1 prune exopolyphosphatase 1
PRX periaxin
PSAT1 phosphoserine aminotransferase 1
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASA2 RAS p21 protein activator 2
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
REM1 RAS (RAD and GEM)-like GTP-binding 1
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RIN2 Ras and Rab interactor 2
RIPPLY2 ripply transcriptional repressor 2
RIT1 Ras-like without CAAX 1
RNASEH1 ribonuclease H1
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNF125 ring finger protein 125, E3 ubiquitin protein ligase
RNF13 ring finger protein 13
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROGDI rogdi homolog (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1L RPGRIP1-like
RPL10 ribosomal protein L10
RPL11 ribosomal protein L11
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RREB1 ras responsive element binding protein 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH3 radial spoke 3 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RUSC2 RUN and SH3 domain containing 2
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SAMD9 sterile alpha motif domain containing 9
SAMHD1 SAM domain and HD domain 1
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
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)
SEC23B Sec23 homolog B (S. cerevisiae)
SEC24C SEC24 family member C
SEC24D SEC24 family member D
SELENON selenoprotein N
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
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETD2 SET domain containing 2
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFRP4 secreted frizzled-related protein 4
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SGMS2 sphingomyelin synthase 2
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHH sonic hedgehog
SHOX short stature homeobox
SHROOM4 shroom family member 4
SIL1 SIL1 nucleotide exchange factor
SIN3A SIN3 transcription regulator family member A
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC10A7 solute carrier family 10, member 7
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC25A46 solute carrier family 25, member 46
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
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
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMS spermine synthase
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SNRPN small nuclear ribonucleoprotein polypeptide N
SON SON DNA binding protein
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPAG1 sperm associated antigen 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPAST spastin
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTBN4 spectrin, beta, non-erythrocytic 4
SRP54 signal recognition particle 54kDa
SRY sex determining region Y
SSR4 signal sequence receptor, delta
STAG2 stromal antigen 2
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK36 serine/threonine kinase 36
STRN4 striatin, calmodulin binding protein 4
SUFU suppressor of fused homolog (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
SYNJ1 synaptojanin 1
SYT1 synaptotagmin I
TAS2R38 taste receptor, type 2, member 38
TBC1D20 TBC1 domain family, member 20
TBCD tubulin folding cofactor D
TBCE tubulin folding cofactor E
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBX5 T-box 5
TBX6 T-box 6
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TDGF1 teratocarcinoma-derived growth factor 1
TERT telomerase reverse transcriptase
TGDS TDP-glucose 4,6-dehydratase
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGIF1 TGFB-induced factor homeobox 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM43 transmembrane protein 43
TMEM67 transmembrane protein 67
TMEM8C transmembrane protein 8C
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TONSL tonsoku-like, DNA repair protein
TOR1A torsin family 1, member A (torsin A)
TP63 tumor protein p63
TPH1 tryptophan hydroxylase 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAIP TRAF interacting protein
TRAPPC11 trafficking protein particle complex 11
TRAPPC12 trafficking protein particle complex 12
TRAPPC2 trafficking protein particle complex 2
TRAPPC4 trafficking protein particle complex 4
TREX1 three prime repair exonuclease 1
TRIO trio Rho guanine nucleotide exchange factor
TRIP11 thyroid hormone receptor interactor 11
TRIP4 thyroid hormone receptor interactor 4
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TRRAP transformation/transcription domain-associated protein
TTC21B tetratricopeptide repeat domain 21B
TTC25 tetratricopeptide repeat domain 25
TTN titin
TTPA tocopherol (alpha) transfer protein
TUBA1A tubulin, alpha 1a
TUBB2B tubulin, beta 2B class IIb
TUBGCP4 tubulin, gamma complex associated protein 4
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2T ubiquitin-conjugating enzyme E2T
UBE3A ubiquitin protein ligase E3A
UBL4A ubiquitin-like 4A
UFD1 ubiquitin recognition factor in ER associated degradation 1
UFSP2 UFM1-specific peptidase 2
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USB1 U6 snRNA biogenesis 1
USP9X ubiquitin specific peptidase 9, X-linked
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VANGL1 VANGL planar cell polarity protein 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WASHC5 WASH complex subunit 5
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC1 Zic family member 1
ZIC2 Zic family member 2
ZMYND10 zinc finger, MYND-type containing 10
ZNF292 zinc finger protein 292
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469