abnormality of joint mobility Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the range and ease of motion of joints across their normal range. (Human Phenotype Ontology, HP_0011729)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011729
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Genes

599 genes associated with the abnormality of joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
ADCY6 adenylate cyclase 6
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 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
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANKRD55 ankyrin repeat domain 55
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APC adenomatous polyposis coli
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARSB arylsulfatase B
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BHLHA9 basic helix-loop-helix family, member a9
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
C19ORF12 chromosome 19 open reading frame 12
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC8 coiled-coil domain containing 8
CCR6 chemokine (C-C motif) receptor 6
CD247 CD247 molecule
CD96 CD96 molecule
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 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
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
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
COL7A1 collagen, type VII, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COMP cartilage oligomeric matrix protein
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRYAB crystallin, alpha B
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CUL4B cullin 4B
CUL7 cullin 7
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DNM2 dynamin 2
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DRD5 dopamine receptor D5
DST dystonin
DYM dymeclin
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM20C family with sequence similarity 20, member C
FAS Fas cell surface death receptor
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF16 fibroblast growth factor 16
FGF9 fibroblast growth factor 9
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
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 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
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FMR1 fragile X mental retardation 1
FNBP4 formin binding protein 4
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
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
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
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
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF1B HNF1 homeobox B
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
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
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL1RN interleukin 1 receptor antagonist
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
ITCH itchy E3 ubiquitin protein ligase
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0319L KIAA0319-like
KIF22 kinesin family member 22
KIF5C kinesin family member 5C
KLHL41 kelch-like family member 41
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATN3 matrilin 3
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
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPST mercaptopyruvate sulfurtransferase
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MVK mevalonate kinase
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
ND1
NDE1 nudE neurodevelopment protein 1
NEB nebulin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH2 notch 2
NOTCH3 notch 3
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTX2 orthodenticle homeobox 2
P3H1 prolyl 3-hydroxylase 1
PAX2 paired box 2
PAX3 paired box 3
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE8B phosphodiesterase 8B
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX1 paired-like homeodomain 1
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
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRG4 proteoglycan 4
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PUF60 poly-U binding splicing factor 60KDa
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)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RBBP8 retinoblastoma binding protein 8
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
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEC23A Sec23 homolog A (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
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
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
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
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
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
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SPEG SPEG complex locus
SPG20 spastic paraplegia 20 (Troyer syndrome)
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)
STAT4 signal transducer and activator of transcription 4
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX2 T-box 2
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TBX6 T-box 6
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
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)
TGM1 transglutaminase 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TNXB tenascin XB
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC2 trafficking protein particle complex 2
TREM2 triggering receptor expressed on myeloid cells 2
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
VANGL1 VANGL planar cell polarity protein 1
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)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WFS1 Wolfram syndrome 1 (wolframin)
WISP3 WNT1 inducible signaling pathway protein 3
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNF469 zinc finger protein 469
ZNF592 zinc finger protein 592