Table 1.
Gene table
| Gene | Entrez Gene ID | Aliases | Functions |
|---|---|---|---|
| ABCC8 | 6833 | ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2 | sarcolemma, synaptic transmission |
| ACTA1 | 58 | ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3 | striated muscle thin filament, muscle filament sliding |
| ACTB | 60 | BRWS1, PS1TP5BP1 | axon guidance, regulation of body fluid levels |
| ACTG1 | 71 | ACT, ACTG, BRWS2, DFNA20, DFNA26, HEL-176 | striated muscle cell development, muscle cell development |
| ADAMTS10 | 81794 | ADAM-TS10, ADAMTS-10, WMS, WMS1 | proteinaceous extracellular matrix |
| ADAMTSL2 | 9719 | GPHYSD1 | lung development, respiratory system development |
| ADCY6 | 112 | AC6, LCCS8 | sarcolemma, regulation of neurogenesis |
| ADGRG6 | 57211 | APG1, DREG, GPR126, PS1TP2, VIGR | axon ensheathment |
| ADSL | 158 | AMPS, ASASE, ASL | carbohydrate derivative biosynthetic process |
| AIMP1 | 9255 | EMAP2, EMAPII, HLD3, SCYE1, p43 | regulation of epithelial cell proliferation, epithelial cell proliferation |
| AKT1 | 207 | AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA | Schwann cell development, Schwann cell differentiation |
| ALG2 | 85365 | CDGIi, CMS14, CMSTA3, NET38, hALPG2 | mannosylation, glycoprotein biosynthetic process |
| ALG3 | 10195 | CDG1D, CDGS4, CDGS6, D16Ertd36e, NOT56L, Not56, not | mannosylation, glycoprotein biosynthetic process |
| ANTXR2 | 118429 | CMG-2, CMG2, HFS, ISH, JHF | endoplasmic reticulum part |
| AP1S2 | 8905 | DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B | neuromuscular process, connective tissue development |
| APLNR | 187 | AGTRL1, APJ, APJR, HG11 | heart development, embryonic morphogenesis |
| ARX | 170302 | CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS | cerebral cortex cell migration, cerebral cortex development |
| ASXL1 | 171023 | BOPS, MDS | bone development, lung development |
| ATM | 472 | AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1 | neuron apoptotic process, regulation of neuron death |
| ATN1 | 1822 | B37, D12S755E, DRPLA, HRS, NOD | neuron apoptotic process, neuron death |
| ATP7A | 538 | DSMAX, MK, MNK, SMAX3 | collagen fibril organization, central nervous system neuron differentiation |
| ATRX | 546 | ATR2, JMS, MRX52, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX | limb morphogenesis, limb development |
| ATXN2 | 6311 | ASL13, ATX2, SCA2, TNRC13 | neuromuscular process, central nervous system neuron differentiation |
| ATXN3 | 4287 | AT3, ATX3, JOS, MJD, MJD1, SCA3 | actin filament-based process, synaptic transmission |
| B3GAT3 | 26229 | GLCATI, glcUAT-I | chondroitin sulfate metabolic process, proteoglycan metabolic process |
| BAG3 | 9531 | BAG-3, BIS, CAIR-1, MFM6 | spinal cord development, I band |
| BICD2 | 23299 | SMALED2, bA526D8.1 | organelle localization |
| BIN1 | 274 | AMPH2, AMPHL, SH3P9 | sarcolemma, I band |
| CANT1 | 124583 | DBQD, SCAN-1, SCAN1, SHAPY | proteoglycan metabolic process, glycoprotein biosynthetic process |
| CAPN3 | 825 | CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94 | muscle cell cellular homeostasis, sarcolemma |
| CASK | 8573 | CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8 | regulation of cellular response to growth factor stimulus, synaptic membrane |
| CD24 | 100133941 | CD24A | neuromuscular synaptic transmission, neuroblast proliferation |
| CD6 | 923 | TP120 | response to wounding |
| CDK5 | 1020 | LIS7, PSSALRE | Schwann cell development, Schwann cell differentiation |
| CHAT | 1103 | CHOACTASE, CMS1A, CMS1A2, CMS6 | developmental growth, synaptic transmission |
| CHMP1A | 5119 | CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A | organelle localization |
| CHRNA1 | 1134 | ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS | muscle cell cellular homeostasis, neuromuscular synaptic transmission |
| CHRNB1 | 1140 | ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS | neuromuscular synaptic transmission, skeletal muscle contraction |
| CHRND | 1144 | ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS | neuromuscular synaptic transmission, skeletal muscle contraction |
| CHRNE | 1145 | ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS | neuromuscular synaptic transmission, skeletal muscle contraction |
| CHRNG | 1146 | ACHRG | neuromuscular synaptic transmission, chemical synaptic transmission, postsynaptic |
| CHST14 | 113189 | ATCS, D4ST1, EDSMC1, HNK1ST | chondroitin sulfate metabolic process, proteoglycan metabolic process |
| CHST3 | 9469 | C6ST, C6ST1, HSD | chondroitin sulfate metabolic process, proteoglycan metabolic process |
| CHUK | 1147 | IKBKA, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16 | skeletal muscle contraction, striated muscle contraction |
| CNTN1 | 1272 | F3, GP135, MYPCN | positive regulation of epithelial cell proliferation, regulation of epithelial cell proliferation |
| CNTNAP1 | 8506 | CASPR, CNTNAP, NRXN4, P190 | axon ensheathment, neuromuscular process, regulation of membrane potential |
| COG7 | 91949 | CDG2E | glycoprotein biosynthetic process, glycoprotein metabolic process |
| COL11A2 | 1302 | DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3 | fibrillar collagen trimer, complex of collagen trimers |
| COL1A1 | 1277 | EDSC, OI1, OI2, OI3, OI4 | fibrillar collagen trimer, complex of collagen trimers |
| COL1A2 | 1278 | OI4 | fibrillar collagen trimer, complex of collagen trimers |
| COL2A1 | 1280 | ANFH, AOM, COL11A3, SEDC, STL1 | fibrillar collagen trimer, complex of collagen trimers |
| COL3A1 | 1281 | EDS4A | fibrillar collagen trimer, complex of collagen trimers |
| COL6A1 | 1291 | OPLL | complex of collagen trimers, collagen metabolic process |
| COL6A2 | 1292 | PP3610 | collagen metabolic process, sarcolemma |
| COL6A3 | 1293 | DYT27 | complex of collagen trimers, collagen metabolic process |
| COL7A1 | 1294 | EBD1, EBDCT, EBR1, NDNC8 | complex of collagen trimers, collagen metabolic process |
| CRLF1 | 9244 | CISS, CISS1, CLF, CLF-1, NR6, zcytor5 | neuron apoptotic process, regulation of neuron death |
| CTSA | 5476 | GLB2, GSL, NGBE, PPCA, PPGB | lysosomal lumen, glycoprotein biosynthetic process |
| CTSL | 1514 | CATL, CTSL1, MEP | lysosomal lumen, collagen metabolic process |
| DCX | 1641 | DBCN, DC, LISX, SCLH, XLIS | cerebral cortex cell migration, hippocampus development |
| DES | 1674 | CSM1, CSM2, LGMD2R | muscle filament sliding, actin filament-based movement |
| DHCR24 | 1718 | DCE, Nbla03646, SELADIN1, seladin-1 | skin development, regulation of neuron death |
| DHCR7 | 1717 | SLOS | lung development, respiratory system development |
| DMPK | 1760 | DM, DM1, DM1PK, DMK, MDPK, MT-PK | skeletal muscle contraction, chemical synaptic transmission, postsynaptic |
| DNM2 | 1785 | CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5 | regulation of cellular response to growth factor stimulus, synaptic membrane |
| DPAGT1 | 1798 | ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT | glycoprotein biosynthetic process, glycoprotein metabolic process |
| DPM1 | 8813 | CDGIE, MPDS | mannosylation, glycoprotein biosynthetic process |
| DST | 667 | BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2 | I band, contractile fiber |
| DYM | 54808 | DMC, SMC | bone development, skeletal system development |
| DYNC1H1 | 1778 | CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22 | organelle localization, glycoprotein biosynthetic process |
| DYSF | 8291 | FER1L1, LGMD2B, MMD1 | sarcolemma, muscle contraction |
| EBP | 10682 | CDPX2, CHO2, CPX, CPXD, MEND | skeletal system development, endoplasmic reticulum part |
| EGR2 | 1959 | AT591, CMT1D, CMT4E, KROX20 | Schwann cell differentiation, peripheral nervous system development |
| EMD | 2010 | EDMD, LEMD5, STA | skeletal muscle tissue development, skeletal muscle organ development |
| ERBB3 | 2065 | ErbB-3, HER3, LCCS2, MDA-BF-1, c-erbB-3, c-erbB3, erbB3-S, p180-ErbB3, p45-sErbB3, p85-sErbB3 | Schwann cell differentiation, peripheral nervous system development |
| ERCC1 | 2067 | COFS4, RAD10, UV20 | developmental growth, embryo development |
| ERCC2 | 2068 | COFS2, EM9, TFIIH, TTD, TTD1, XPD | glial cell development, spinal cord development |
| ERCC6 | 2074 | ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1 | developmental growth |
| ERLIN2 | 11160 | C8orf2, Erlin-2, NET32, SPFH2, SPG18 | endoplasmic reticulum part |
| ESCO2 | 157570 | 2410004I17Rik, EFO2, RBS | animal organ development |
| EZH2 | 2146 | ENX-1, ENX1, EZH1, EZH2b, KMT6, KMT6A, WVS, WVS2 | hippocampus development, limbic system development |
| FAM20C | 56975 | DMP-4, DMP4, GEF-CK, RNS | bone development, osteoblast differentiation |
| FBN1 | 2200 | ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2 | extracellular matrix disassembly, regulation of cellular response to growth factor stimulus |
| FBN2 | 2201 | CCA, DA9, EOMD | embryonic limb morphogenesis, extracellular matrix disassembly |
| FBN3 | 84467 | regulation of cellular response to growth factor stimulus, proteinaceous extracellular matrix | |
| FGD1 | 2245 | AAS, FGDY, MRXS16, ZFYVE3 | actin filament-based process, cellular response to growth factor stimulus |
| FGF9 | 2254 | FGF-9, GAF, HBFG-9, HBGF-9, SYNS3 | chondrocyte differentiation, regulation of stem cell proliferation, embryonic skeletal system development |
| FGFR1 | 2260 | BFGFR, CD331, CEK, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1 | cerebral cortex cell migration, neuroblast proliferation |
| FGFR2 | 2263 | BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25 | prostate gland epithelium morphogenesis, neuroblast proliferation |
| FGFR3 | 2261 | ACH, CD333, CEK2, HSFGFR3EX, JTK4 | glial cell development, bone morphogenesis |
| FHL1 | 2273 | FHL-1, FHL1A, FHL1B, FLH1A, KYOT, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA | regulation of membrane potential, muscle organ development |
| FKBP10 | 60681 | BRKS1, FKBP65, OI11, OI6, PPIASE, hFKBP65 | endoplasmic reticulum part |
| FKRP | 79147 | LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5 | mannosylation, sarcolemma |
| FKTN | 2218 | CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4 | mannosylation, muscle organ development |
| FLNA | 2316 | ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD | protein import, actin cytoskeleton |
| FLNB | 2317 | ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP | hippocampus development, limbic system development |
| FUCA1 | 2517 | FUCA | lysosomal lumen, glycoprotein biosynthetic process |
| GAA | 2548 | LYAG | muscle cell cellular homeostasis, skeletal muscle contraction |
| GAD1 | 2571 | CPSQ1, GAD, SCP | synaptic transmission |
| GBA | 2629 | GBA1, GCB, GLUC | lysosomal lumen, skin development |
| GBE1 | 2632 | APBD, GBE, GSD4 | carbohydrate metabolic process |
| GCK | 2645 | FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2 | actin cytoskeleton, carbohydrate derivative biosynthetic process |
| GDF5 | 8200 | BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2 | chondrocyte differentiation, embryonic limb morphogenesis |
| GJA1 | 2697 | AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA | actin filament-based movement, embryonic limb morphogenesis |
| GLI3 | 2737 | ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV | cerebral cortex cell migration, neuroblast proliferation |
| GLRA1 | 2741 | HKPX1, STHE | chemical synaptic transmission, postsynaptic, neuromuscular process |
| GLRB | 2743 | HKPX2 | neuromuscular process, synaptic membrane |
| GLUL | 2752 | GLNS, GS, PIG43, PIG59 | positive regulation of epithelial cell proliferation, regulation of epithelial cell proliferation |
| GPC3 | 2719 | DGSX, GTR2-2, MXR7, OCI-5, SDYS, SGB, SGBS, SGBS1 | body morphogenesis, chondroitin sulfate metabolic process |
| GRHL3 | 57822 | SOM, TFCP2L4, VWS2 | skin development, embryonic organ morphogenesis |
| GRN | 2896 | CLN11, GEP, GP88, PCDGF, PEPI, PGRN | neural precursor cell proliferation, positive regulation of epithelial cell proliferation |
| GUSB | 2990 | BG, MPS7 | lysosomal lumen, carbohydrate metabolic process |
| HEXA | 3073 | TSD | chondroitin sulfate metabolic process, lysosomal lumen |
| HEXB | 3074 | ENC-1AS, HEL-248, HEL-S-111 | chondroitin sulfate metabolic process, lysosomal lumen |
| HLA-DRB1 | 3123 | DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1 | negative regulation of cell proliferation, response to wounding |
| HOXA13 | 3209 | HOX1, HOX1J | prostate gland epithelium morphogenesis, embryonic limb morphogenesis |
| HOXD13 | 3239 | BDE, BDSD, HOX4I, SPD | prostate gland epithelium morphogenesis, embryonic limb morphogenesis |
| HRAS | 3265 | C-BAS/HAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV, HRAS1, RASH1, p21ras | positive regulation of epithelial cell proliferation, neuron apoptotic process |
| HSPG2 | 3339 | HSPG, PLC, PRCAN, SJA, SJS, SJS1 | chondroitin sulfate metabolic process, bone morphogenesis |
| IDS | 3423 | MPS2, SIDS | chondroitin sulfate metabolic process, lysosomal lumen |
| IGF2 | 3481 | C11orf43, GRDF, IGF-II, PP9974 | digestive system development, striated muscle cell differentiation |
| IGHMBP2 | 3508 | CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7 | spinal cord development, central nervous system neuron differentiation |
| IMPAD1 | 54928 | GPAPP, IMP 3, IMP-3, IMPA3 | chondroitin sulfate metabolic process, bone morphogenesis |
| INSR | 3643 | CD220, HHF5 | digestive system development, regulation of developmental growth |
| IRF6 | 3664 | LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1 | skin development, epithelial cell proliferation |
| ISPD | 729920 | MDDGA7, MDDGC7, Nip, hCG_1745121 | mannosylation, glycoprotein biosynthetic process |
| ITGA6 | 3655 | CD49f, ITGA6B, VLA-6 | digestive tract development, digestive system development |
| ITGB4 | 3691 | CD104 | digestive tract development, digestive system development |
| KCNA1 | 3736 | AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1 | neuroblast proliferation, hippocampus development |
| KCNJ11 | 3767 | BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3 | sarcolemma, regulation of membrane potential |
| KCNK9 | 51305 | K2p9.1, KT3.2, TASK-3, TASK3 | regulation of membrane potential, synaptic transmission |
| KIAA0196 | 9897 | RTSC, SPG8 | cell development |
| KIF14 | 9928 | MKS12 | hippocampus development, limbic system development |
| KIF5C | 3800 | CDCBM2, KINN, NKHC, NKHC-2, NKHC2 | axon guidance, axonogenesis |
| KIF7 | 374654 | ACLS, AGBK, HLS2, JBTS12, UNQ340 | heart development, blood vessel development |
| KLHL40 | 131377 | KBTBD5, NEM8, SRYP, SYRP | muscle fiber development, I band |
| KLHL41 | 10324 | KBTBD10, Krp1, SARCOSIN | muscle fiber development, striated muscle contraction, striated muscle cell development |
| KLKB1 | 3818 | KLK3, PKK, PKKD, PPK | extracellular matrix disassembly, extracellular matrix organization |
| L1CAM | 3897 | CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1 | synaptic membrane, regulation of developmental growth |
| LAMA2 | 3908 | LAMM | Schwann cell development, Schwann cell differentiation |
| LARGE | 9215 | MDC1D, MDDGA6, MDDGB6 | muscle cell cellular homeostasis, mannosylation |
| LIFR | 3977 | CD118, LIF-R, SJS2, STWS, SWS | cell-type specific apoptotic process, neuron projection morphogenesis |
| LMBR1 | 64327 | ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, ZRS | embryonic limb morphogenesis, limb morphogenesis |
| LMNA | 4000 | CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1 | striated muscle cell development, muscle cell development |
| LMX1B | 4010 | LMX1.2, NPS1 | chordate embryonic development, embryo development |
| LTBP2 | 4053 | C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3 | regulation of stem cell proliferation, stem cell proliferation |
| MAGEL2 | 54551 | NDNL1, PWLS, SHFYNG, nM15 | actin filament-based process |
| MASP1 | 5648 | 3MC1, CRARF, CRARF1, MAP1, MASP, MASP3, MAp44, PRSS5, RaRF | response to wounding |
| MED12 | 9968 | ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230 | Schwann cell development, Schwann cell differentiation |
| MEGF10 | 84466 | EMARDD | muscle cell development, skeletal muscle tissue development |
| MFN2 | 9927 | CMT2A, CMT2A2, CPRP1, HSG, MARF | organelle localization, chordate embryonic development |
| MMP2 | 4313 | CLG4, CLG4A, MMP-2, MMP-II, MONA, TBE-1 | face development, body morphogenesis |
| MNX1 | 3110 | HB9, HLXB9, HOXHB9, SCRA1 | spinal cord development, neuron migration |
| MTM1 | 4534 | CNM, MTMX, XLMTM | muscle cell cellular homeostasis, I band |
| MUSK | 4593 | CMS9, FADS | neuron apoptotic process, regulation of neuron death |
| MYBPC2 | 4606 | MYBPC, MYBPCF | muscle filament sliding, actin filament-based movement |
| MYH2 | 4620 | IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa | muscle filament sliding, actin filament-based movement |
| MYH3 | 4621 | HEMHC, MYHC-EMB, MYHSE1, SMHCE | muscle filament sliding, skeletal muscle contraction |
| MYH7B | 57644 | MHC14, MYH14 | skeletal muscle contraction, actin filament-based movement |
| MYH8 | 4626 | DA7, MyHC-peri, MyHC-pn, gtMHC-F | muscle filament sliding, skeletal muscle contraction |
| MYO18B | 84700 | muscle fiber development, I band | |
| MYO9A | 4649 | actin cytoskeleton | |
| MYOT | 9499 | LGMD1, LGMD1A, MFM3, TTID, TTOD | sarcolemma, I band |
| NALCN | 259232 | CLIFAHDD, CanIon, IHPRF, INNFD, VGCNL1, bA430M15.1 | regulation of membrane potential |
| NEB | 4703 | NEB177D, NEM2 | striated muscle thin filament, muscle filament sliding |
| NEFH | 4744 | NFH | hippocampus development, peripheral nervous system development |
| NEU1 | 4758 | NANH, NEU, SIAL1 | lysosomal lumen, glycoprotein biosynthetic process |
| NF1 | 4763 | NFNS, VRNF, WSS | Schwann cell development, Schwann cell differentiation |
| NOG | 9241 | SYM1, SYNS1 | prostate gland epithelium morphogenesis, face development |
| OCRL | 4952 | INPP5F, LOCR, NPHL2, OCRL-1, OCRL1 | muscle system process, chordate embryonic development |
| OFD1 | 8481 | 71-7A, CXorf5, JBTS10, RP23, SGBS2 | cell projection morphogenesis, cell part morphogenesis |
| ORC4 | 5000 | ORC4L, ORC4P | actin cytoskeleton |
| ORC6 | 23594 | ORC6L | actin cytoskeleton |
| PAFAH1B1 | 5048 | LIS1, LIS2, MDCR, MDS, PAFAH | cerebral cortex cell migration, neuroblast proliferation |
| PANK2 | 80025 | C20orf48, HARP, HSS, NBIA1, PKAN | regulation of membrane potential, carbohydrate derivative biosynthetic process |
| PAX3 | 5077 | CDHS, HUP2, WS1, WS3 | spinal cord development, central nervous system neuron differentiation |
| PEX1 | 5189 | PBD1A, PBD1B, ZWS, ZWS1 | protein targeting to peroxisome, intracellular protein transmembrane import |
| PEX10 | 5192 | NALD, PBD6A, PBD6B, RNF69 | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX12 | 5193 | PAF-3, PBD3A | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX13 | 5194 | NALD, PBD11A, PBD11B, ZWS | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX14 | 5195 | NAPP2, PBD13A, Pex14p, dJ734G22.2 | protein targeting to peroxisome, intracellular protein transmembrane import |
| PEX2 | 5828 | PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3 | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX26 | 55670 | PBD7A, PBD7B, PEX26M1T, Pex26pM1T | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX3 | 8504 | PBD10A, TRG18 | integral component of peroxisomal membrane, protein targeting to peroxisome |
| PEX5 | 5830 | PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1 | protein targeting to peroxisome, intracellular protein transmembrane import |
| PEX6 | 5190 | PAF-2, PAF2, PBD4A, PDB4B, PXAAA1 | protein targeting to peroxisome, intracellular protein transmembrane import |
| PEX7 | 5191 | PBD9B, PTS2R, RCDP1, RD | protein targeting to peroxisome, intracellular protein transmembrane import |
| PFKM | 5213 | ATP-PFK, GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122 | muscle cell cellular homeostasis, carbohydrate metabolic process |
| PIEZO2 | 63895 | C18orf30, C18orf58, DA3, DA5, FAM38B, FAM38B2, HsT748, HsT771, MWKS | regulation of membrane potential |
| PIGT | 51604 | CGI-06, MCAHS3, NDAP, PNH2 | neuron apoptotic process, neuron death |
| PIP5K1C | 23396 | LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma | organelle localization, axon guidance |
| PITX1 | 5307 | BFT, CCF, LBNBG, POTX, PTX1 | embryonic limb morphogenesis, limb morphogenesis |
| PLEKHG5 | 57449 | CMTRIC, DSMA4, GEF720, Syx, Tech | chemotaxis, cellular response to growth factor stimulus |
| PLOD1 | 5351 | EDS6, LH, LH1, LLH, PLOD | extracellular matrix organization, endoplasmic reticulum part |
| PLOD2 | 5352 | BRKS2, LH2, TLH | extracellular matrix organization, endoplasmic reticulum part |
| PLOD3 | 8985 | LH3 | collagen fibril organization, lung development |
| PLP1 | 5354 | GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2 | glial cell development, axon ensheathment |
| PMM2 | 5373 | CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2 | glycoprotein biosynthetic process, glycoprotein metabolic process |
| PMP22 | 5376 | CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110 | peripheral nervous system development, axon ensheathment |
| POMGNT1 | 55624 | GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2 | glycoprotein biosynthetic process, glycoprotein metabolic process |
| POMGNT2 | 84892 | AGO61, C3orf39, GTDC2, MDDGA8 | mannosylation, neuron migration |
| POMT1 | 10585 | LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT | mannosylation, extracellular matrix organization |
| POMT2 | 29954 | LGMD2N, MDDGA2, MDDGB2, MDDGC2 | mannosylation, glycoprotein biosynthetic process |
| POR | 5447 | CPR, CYPOR, P450R | bone morphogenesis, chondrocyte differentiation |
| PRG4 | 10216 | CACP, HAPO, JCAP, MSF, SZP | stem cell proliferation, animal organ development |
| PRKAR1A | 5573 | ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1 | striated muscle cell development, muscle cell development |
| PRX | 57716 | CMT4F | axon ensheathment |
| PSD3 | 23362 | EFA6D, EFA6R, HCA67 | synaptic membrane |
| PTDSS1 | 9791 | LMHD, PSS1, PSSA | carbohydrate derivative biosynthetic process, endoplasmic reticulum part |
| PTH1R | 5745 | PFE, PTHR, PTHR1 | chondrocyte differentiation, cartilage development |
| RAB18 | 22931 | RAB18LI1, WARBM3 | brain development, head development |
| RAB3GAP1 | 22930 | P130, RAB3GAP, RAB3GAP130, WARBM1 | face development, body morphogenesis |
| RAPSN | 5913 | CMS11, CMS4C, FADS, RAPSYN, RNF205 | neuromuscular synaptic transmission, neuron apoptotic process |
| RBM10 | 8241 | DXS8237E, GPATC9, GPATCH9, S1-1, TARPS, ZRANB5 | cell-type specific apoptotic process, negative regulation of cell proliferation |
| RELN | 5649 | ETL7, LIS2, PRO1598, RL | cerebral cortex cell migration, hippocampus development |
| RET | 5979 | CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1, RET51 | digestive tract development, digestive system development |
| RIPK4 | 54101 | ANKK2, ANKRD3, DIK, NKRD3, PKK, PPS2, RIP4 | morphogenesis of an epithelium, tissue morphogenesis |
| RMRP | 6023 | CHH, NME1, RMRPR, RRP2 | hippocampus development, limbic system development |
| RNASEH2A | 10535 | AGS4, JUNB, RNASEHI, RNHIA, RNHL | osteoblast differentiation, ossification |
| RNASEH2B | 79621 | AGS2, DLEU8 | chordate embryonic development, embryo development |
| RYR1 | 6261 | CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR | muscle fiber development, sarcolemma |
| SCN4A | 6329 | CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1 | muscle contraction, regulation of membrane potential |
| SEPN1 | 57190 | CFTD, MDRS1, RSMD1, RSS, SELN | muscle fiber development, striated muscle cell development |
| SETX | 23064 | ALS4, AOA2, SCAR1, bA479K20.2 | regulation of neurogenesis, regulation of nervous system development |
| SGCG | 6445 | 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, MAM, SCARMD2, SCG3, gamma-SG | sarcolemma, muscle cell development |
| SHOX | 6473 | GCFX, PHOG, SHOXY, SS | skeletal system development |
| SKI | 6497 | SGS, SKV | Schwann cell development, Schwann cell differentiation |
| SLC12A6 | 9990 | ACCPN, KCC3, KCC3A, KCC3B | blood vessel development, synaptic transmission |
| SLC26A2 | 1836 | D5S1708, DTD, DTDST, EDM4, MST153, MSTP157 | regulation of membrane potential, ossification |
| SLC39A13 | 91252 | LZT-Hs9 | connective tissue development, tissue development |
| SLC3A1 | 6519 | ATR1, CSNU1, D2H, NBAT, RBAT | carbohydrate metabolic process |
| SLC9A6 | 10479 | MRSA, NHE6 | regulation of cellular response to growth factor stimulus, developmental growth |
| SMN1 | 6606 | BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A | I band, contractile fiber |
| SOD1 | 6647 | ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer | muscle cell cellular homeostasis, Schwann cell development |
| SOX10 | 6663 | DOM, PCWH, WS2E, WS4, WS4C | neuroblast proliferation, peripheral nervous system development |
| SOX9 | 6662 | CMD1, CMPD1, SRA1, SRXX2, SRXY10 | prostate gland epithelium morphogenesis, bone morphogenesis |
| SPG20 | 23111 | SPARTIN, TAHCCP1 | neuromuscular process, connective tissue development |
| SRD5A3 | 79644 | CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1 | glycoprotein biosynthetic process, glycoprotein metabolic process |
| STAC3 | 246329 | NAM | neuromuscular synaptic transmission, skeletal muscle contraction |
| SULF1 | 23213 | SULF-1 | prostate gland epithelium morphogenesis, proteoglycan metabolic process |
| SYNE1 | 23345 | 8B, ARCA1, C6orf98, CPG2, EDMD4, MYNE1, Nesp1, SCAR8, dJ45H2.2 | contractile fiber, synaptic membrane |
| TARP | 445347 | CD3G, TCRG, TCRGC1, TCRGC2, TCRGV | cell-type specific apoptotic process |
| TBX15 | 6913 | TBX14 | embryonic skeletal system development, skeletal system morphogenesis |
| TBX5 | 6910 | HOS | embryonic limb morphogenesis, limb morphogenesis |
| TGFB3 | 7043 | ARVD, ARVD1, RNHF, TGF-beta3 | face development, body morphogenesis |
| TNNI2 | 7136 | AMCD2B, DA2B, FSSV, fsTnI | striated muscle thin filament, muscle filament sliding |
| TNNT1 | 7138 | ANM, NEM5, STNT, TNT, TNTS | striated muscle thin filament, muscle filament sliding |
| TNNT3 | 7140 | TNTF | striated muscle thin filament, muscle filament sliding |
| TPM2 | 7169 | AMCD1, DA1, DA2B, HEL-S-273, NEM4, TMSB | striated muscle thin filament, muscle filament sliding |
| TPM3 | 7170 | CAPM1, CFTD, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPMsk3, TRK, hscp30 | striated muscle thin filament, muscle filament sliding |
| TREX1 | 11277 | AGS1, CRV, DRN3, HERNS | endoplasmic reticulum part |
| TSC1 | 7248 | LAM, TSC | hippocampus development, limbic system development |
| TSC2 | 7249 | LAM, PPP1R160, TSC4 | protein import, morphogenesis of an epithelium |
| TWIST2 | 117581 | AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39 | face development, body morphogenesis |
| TYMP | 1890 | ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF | blood vessel development, chemotaxis |
| UBA1 | 7317 | A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X | endoplasmic reticulum part |
| UBE3A | 7337 | ANCR, AS, E6-AP, EPVE6AP, HPVE6A | developmental growth, brain development |
| UPK3A | 7380 | UP3A, UPIII, UPIIIA, UPK3 | endoplasmic reticulum part, cellular component morphogenesis |
| UTRN | 7402 | DMDL, DRP, DRP1 | sarcolemma, synaptic membrane |
| VPS33B | 26276 | bone development, organelle localization | |
| WNT5A | 7474 | hWNT5A | prostate gland epithelium morphogenesis, face development |
| WNT7A | 7476 | chemical synaptic transmission, postsynaptic, chondrocyte differentiation | |
| ZBTB42 | 100128927 | LCCS6, ZNF925 | muscle organ development, muscle structure development |
| ZC4H2 | 55906 | HCA127, KIAA1166, WRWF, WWS | spinal cord development, central nervous system neuron differentiation |
| ZIC3 | 7547 | HTX, HTX1, VACTERLX, ZNF203 | digestive tract development, digestive system development |
| ZMPSTE24 | 10269 | FACE-1, FACE1, HGPS, PRO1, STE24, Ste24p | endoplasmic reticulum part |
| ZNF335 | 63925 | MCPH10, NIF-1, NIF1, NIF2 | neuroblast proliferation, regulation of stem cell proliferation |
This table lists all the genes associated with arthrogryposis used in the ClueGO enrichment analysis. Entrez Gene ID: Entrez Gene unique ID; Aliases: additional gene names; Functions: GO terms that are associated with the specific gene.