Neuroexoma Versão 1

Junho 2017 | 1411 genes

AAAS AARS1 AARS2 AASS ABAT ABCA1 ABCB7 ABCC6 ABCC8 ABCD1 ABCD4 ABHD12 ABHD5 ACACA ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACO2 ACOX1 ACSF3 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACVRL1 ACY1 ADAMTS2 ADAR ADAT3 ADCY5 ADD3 ADGRG1 ADGRV1 ADK ADNP ADRA2B ADSL AFF2 AFG3L2 AGA AGK AGL AGPAT2 AGRN AGXT AHI1 AIFM1 AIMP1 AKT1 AKT3 ALAD ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALS2 ALX1 ALX3 ALX4 AMACR AMN AMPD1 AMPD2 AMT ANG ANK3 ANKLE2 ANKRD11 ANO10 ANO3 ANO5 ANTXR1 AP1S1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APOA1 ApoE APP APTX AR ARFGEF2 ARG1 ARHGAP31 ARHGEF10 ARHGEF6 ARHGEF9 ARID1A ARID1B ARL13B ARL6 ARL6IP1 ARSA ARSB ARSI ARSL ARV1 ARX ASAH1 ASCL1 ASL ASNS ASPA ASPM ASS1 ASXL1 ASXL3 ATCAY ATIC ATL1 ATL3 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2A1 ATP2A2 ATP2B3 ATP5F1A ATP5F1E ATP6AP2 ATP6V0A2 ATP7A ATP7B ATP8A2 ATPAF2 ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 AUH AUTS2 AVP B3GALNT2 B3GLCT B4GALNT1 B4GALT1 B4GAT1 B9D1 B9D2 BAG3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCKDHA BCKDHB BCKDK BCOR BCS1L BDNF BEAN1 BICD2 BIN1 BOLA3 BRAF BRAT1 BRF1 BRWD3 BSCL2 BSND BVES C12orf57 C19ORF12 C9ORF72 CA8 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1G CACNA1S CACNB4 CACNG2 CAD CAMTA1 CAPN1 CAPN3 CARS2 CASK CASQ1 CASR CAV1 CAV3 CAVIN1 CBL CC2D1A CC2D2A CCDC115 CCDC174 CCDC78 CCDC88C CCM2 CCND2 CCT5 CD59 CD96 CDH15 CDK13 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CENPE CENPJ CEP104 CEP135 CEP152 CEP290 CEP41 CEP63 CERS1 CERT1 CFL2 CHAMP1 CHAT CHCHD10 CHCHD2 CHD2 CHD7 CHKB CHMP1A CHMP2B CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CILK1 CIZ1 CLCN1 CLCN2 CLCN4 CLCNKA CLCNKB CLIC2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CNBP CNNM2 CNTN1 CNTN2 CNTNAP2 COA5 COA6 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL11A2 COL12A1 COL13A1 COL18A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COL9A3 COLQ COQ2 COQ4 COQ6 COQ8A COQ9 COX10 COX14 COX15 COX6A1 COX6B1 COX8A CP CPA6 CPLANE1 CPS1 CPT1C CPT2 CRADD CRB2 CRBN CREBBP CRIPT CRPPA CRYAB CSF1R CSNK2A1 CSPP1 CST3 CSTB CTC1 CTCF CTDP1 CTNNB1 CTSD CTSF CUL4B CWF19L1 CYP26B1 CYP27A1 CYP2U1 CYP7B1 DAG1 DARS1 DARS2 DBT DCAF17 DCAF8 DCTN1 DCX DDHD1 DDHD2 DDOST DDX3X DEAF1 DEPDC5 DES DGUOK DHCR7 DHH DHTKD1 DIAPH1 DIAPH3 DIP2B DKC1 DLD DLG3 DLL4 DMD DMPK DMXL2 DNAJB2 DNAJB6 DNAJC19 DNAJC3 DNAJC5 DNAJC6 DNM1 DNM1L DNM2 DNMT1 DOCK6 DOCK7 DOK7 DOLK DPAGT1 DPH1 DPM1 DPM2 DPM3 DPP6 DRD2 DST DYNC1H1 DYNC2H1 DYRK1A DYSF EARS2 EBF3 EBP ECEL1 EDC3 EEF1A2 EEF2 EFHC1 EFTUD2 EGR2 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELAC2 ELOVL4 ELOVL5 ELP1 ELP2 EMC1 EMD EMX2 ENO3 ENTPD1 EOGT EP300 EPB41L1 EPM2A ERBB4 ERCC1 ERCC2 ERCC5 ERCC6 ERLIN1 ERLIN2 ERMARD ESCO2 ETFA ETFB ETFDH ETHE1 EXOC8 EXOSC3 EXOSC8 EXT2 FA2H FADD FAM126A FARS2 FASTKD2 FBLN5 FBN1 FBXL4 FBXO31 FBXO38 FBXO7 FGD1 FGD4 FGF12 FGF14 FGFR1 FGFR2 FH FHL1 FIG4 FKRP FKTN FLNA FLNC FLVCR1 FLVCR2 FMN2 FMR1 FOLR1 FOXG1 FOXP1 FOXP2 FOXRED1 FREM1 FRMD4A FRMD7 FRMPD4 FRRS1L FTL FTO FTSJ1 FUS FXN G6PC1 GAA GABRA1 GABRB1 GABRB3 GABRG2 GAD1 GAL GALC GALNS GAMT GAN GARS1 GATAD2B GATM GBA GBA2 GBE1 GCDH GCH1 GCSH GDAP1 GDI1 GDNF GFAP GFER GFM1 GFPT1 GJB1 GJC2 GK GLA GLB1 GLDC GLE1 GLI2 GLI3 GLRA1 GLRB GLRX5 GM2A GMPPA GMPPB GNAL GNAO1 GNB1 GNB4 GNB5 GNE GNPAT GNS GOSR2 GPC3 GPR143 GPT2 GRIA3 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIP1 GRM1 GRN GSN GTPBP3 GUF1 GUSB GYG1 GYS1 GYS2 HACE1 HADHA HADHB HARS1 HCCS HCFC1 HCN1 HDAC6 HDAC8 HECW2 HEPACAM HERC1 HERC2 HESX1 HEXA HEXB HGSNAT HIKESHI HINT1 HIVEP2 HK1 HMGB3 HNMT HNRNPA1 hnRNPA2B1 HNRNPDL HNRNPH2 HOXA1 HOXD10 HPCA HPRT1 HRAS HSD17B10 HSD17B4 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS1 IARS2 IBA57 IDS IDUA IER3IP1 IFIH1 IFT140 IFT27 IGBP1 IGF1 IGHMBP2 IKBKG IL11RA IL1RAPL1 IL1RN INF2 INPP5E INS IQSEC2 IRX5 ISCU ITGA7 ITM2B ITPA ITPR1 JAG1 JPH3 JRK KANK1 KARS1 KAT6A KAT6B KATNB1 KBTBD13 KCNA1 KCNA2 KCNB1 KCNC1 KCNC3 KCND3 KCNJ1 KCNJ10 KCNJ11 KCNJ2 KCNK18 KCNK9 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD17 KCTD7 KDM1A KDM5C KDM6A KIAA0586 KIDINS220 KIF11 KIF1A KIF1B KIF1C KIF21A KIF2A KIF4A KIF5A KIF5C KIF7 KIRREL3 KLC2 KLHL15 KLHL40 KLHL41 KMT2A KMT2B KMT2D KNL1 KPTN KRAS KRIT1 L1CAM LAMA2 LAMB1 LAMB2 LAMC3 LAMP2 LARGE1 LBR LDB3 LDHA LGI1 LIG4 LIMS2 LINS1 LITAF LMAN2L LMBRD1 LMNA LMNB1 LMNB2 LMOD3 LPIN1 LRP2 LRP4 LRPPRC LRRK2 LRSAM1 LYRM4 LZTFL1 LZTR1 MAG MAGEL2 MAN1B1 MAOA MAPK10 MAPT MARS1 MARS2 MASP1 MATR3 MBD5 MBTPS2 MCPH1 MECP2 MED12 MED13L MED17 MED23 MED25 MEF2C METTL23 MFF MFN2 MFSD2A MFSD8 MGAT2 MICU1 MID1 MID2 MKKS MKS1 MLC1 MMAA MMAB MMACHC MMADHC MMUT MOGS MPDU1 MPDZ MPI MPV17 MPZ MRE11 MRPL3 MRPL44 MRPS16 MRPS22 MSMO1 MSX2 MTFMT MTHFR MTM1 MTMR2 MTO1 MTOR MTPAP MTR MTRFR MTRR MTTP MUSK MVK MYBPC1 MYCN MYF6 MYH14 MYH2 MYH3 MYH7 MYO5A MYOT MYT1L NAA10 NAGA NAGLU NALCN NARS2 NAT8L NDE1 NDN NDP NDRG1 NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA4 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFH NEFL NEU1 NEXMIF NF1 NF2 NFIX NFU1 NGF NHEJ1 NHLRC1 NHP2 NHS NIPA1 NIPBL NKX2-1 NLRP3 NME1 NOL3 NONO NOP10 NOP56 NOTCH1 NOTCH2 NOTCH3 NPC1 NPC2 NPHP1 NPHP3 NPRL2 NPRL3 NRAS NRXN1 NSD1 NSDHL NSUN2 NT5C2 NTRK1 NTRK2 NUBPL OCLN OCRL OFD1 OPA1 OPA3 OPHN1 OPTN ORC1 OTC PAFAH1B1 PAH PAK3 PANK2 PARK7 PARN PAX2 PAX3 PC PCBD1 PCDH19 PCLO PCNA PCNT PDCD10 PDE10A PDE4D PDE6D PDE8B PDGFB PDGFRB PDHA1 PDK3 PDSS1 PDSS2 PDYN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PFN1 PGAM2 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PHC1 PHF6 PHF8 PHKA1 PHKA2 PHOX2B PHYH PI4KA PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3R2 PIK3R5 PINK1 PLA2G6 PLCB1 PLEC PLEKHG2 PLEKHG5 PLK4 PLP1 PMM2 PMP22 PMPCA PNKD PNKP PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POGZ POLG POLG2 POLR1C POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PPP1R15B PPP2R1A PPP2R2B PPP2R5D PPT1 PQBP1 PRDM8 PREPL PRICKLE1 PRICKLE2 PRKCG PRKDC PRKN PRKRA PRNP PROP1 PRPS1 PRRT2 PRRX1 PRSS12 PRSS56 PRX PSAP PSEN1 PSEN2 PTCH1 PTEN PTF1A PTPN11 PTRH2 PTS PURA PUS1 PUS3 PYCR2 PYGL PYGM QARS1 QDPR RAB18 RAB39B RAB3GAP1 RAB3GAP2 RAB7A RAD21 RAD50 RAF1 RAI1 RAPSN RARB RARS1 RARS2 RAX RBBP8 RBM10 RBM28 RBM8A RBP4 RBPJ REEP1 REEP2 RELN RERE RETREG1 RFT1 RIN2 RIT1 RLIM RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF135 RNF170 RNF216 RNU4ATAC ROGDI ROR2 RPGRIP1L RPL10 RPS6KA3 RRM2B RTEL1 RTN2 RTN4IP1 RTTN RUBCN RXYLT1 RYR1 SACS SAMHD1 SASS6 SBDS SBF1 SBF2 SCARB2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A SCO1 SCO2 SCP2 SCYL1 SDCCAG8 SDHA SDHAF1 SELENON SEPSECS SEPTIN9 SERAC1 SERPINI1 SETBP1 SETD2 SETD5 SETX SFXN4 SGCA SGCB SGCD SGCE SGCG SGSH SH3TC2 SHANK2 SHANK3 SHH SHOC2 SHROOM4 SIGMAR1 SIK1 SIL1 SIX3 SKI SLC12A1 SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC25A46 SLC2A1 SLC2A2 SLC30A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC37A4 SLC39A14 SLC39A8 SLC4A4 SLC5A7 SLC6A1 SLC6A17 SLC6A3 SLC6A5 SLC6A8 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMN1 SMPD1 SMS SNAP29 SNCA SNCB SNIP1 SNRPB SNX14 SOBP SOD1 SOS1 SOS2 SOX10 SOX11 SOX3 SPART SPAST SPATA5 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRD5A3 SRPX2 SSR4 ST3GAL3 ST3GAL5 STAC3 STAMBP STIL STRADA STT3A STT3B STUB1 STX1B STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SURF1 SYN1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYP SYT14 SYT2 SZT2 TACO1 TAF1 TAF2 TAFAZZIN TARDBP TARS2 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBP TBX1 TCAP TCF12 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TDP2 TECPR2 TECR TENM4 TFAM TFAP2A TFAP2B TFG TG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM6 TH THAP1 THOC2 TIMM8A TINF2 TK2 TKT TMCO1 TMEM126A TMEM138 TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM240 TMEM43 TMEM67 TMEM70 TMLHE TNIK TNNI2 TNNT1 TNNT3 TNPO3 TOR1A TOR1AIP1 TPK1 TPM2 TPM3 TPP1 TRAPPC11 TRAPPC9 TRDN TREM2 TREX1 TRIM2 TRIM32 TRIO TRMT10A TRNT1 TRPM6 TRPS1 TRPV4 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHB TSPAN7 TTBK2 TTC19 TTC21B TTC8 TTI2 TTN TTPA TTR TUBA1A TUBA4A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TUSC3 TWNK TXN2 TYMP TYROBP UBA1 UBA5 UBE2A UBE3A UBQLN2 UCHL1 UMPS UNC80 UPB1 UPF3B UQCC2 UQCC3 UQCRB UQCRQ USP27X USP8 USP9X VAMP1 VANGL1 VAPB VARS2 VAX1 VCP VIPAS39 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13C VPS33B VPS35 VPS37A VPS53 VRK1 VWA3B WAC WASHC4 WASHC5 WDPCP WDR45 WDR48 WDR62 WDR81 WFS1 WNK1 WNT3 WNT5A WNT7A WRAP53 WWOX XK XPA XPC XPR1 XRCC4 XYLT1 YAP1 YARS1 YARS2 ZBTB16 ZBTB18 ZC3H14 ZDHHC15 ZDHHC9 ZEB2 ZFR ZFYVE26 ZFYVE27 ZIC1 ZIC2 ZMYND11 ZNF335 ZNF423 ZNF592 ZNF711