Annotation Detail
Information
- Associated Genes
- ABCB7 AGTR2 NR0B1 ALAS2 ABCD1 SLC25A5 XIAP AR ARAF ARHGAP4 ARR3 ATP2B3 ATP7A ATRX AVPR2 BGN BMX BRS3 BTK CACNA1F S100G CAPN6 CD40LG CDR1 CDX4 CETN2 CHM CLCN5 CNGA2 COL4A5 COL4A6 COX7B CSTF2 TEX28 CYBB CYLC1 DCX DDX3X TIMM8A DIAPH2 DLG3 DMD DRP2 TSC22D3 DUSP9 EDA EFNB1 EIF1AX EIF2S3 ELF4 ELK1 F9 ACSL4 GPC4 FGD1 FGF13 FHL1 VEGFD FMR1 AFF2 CENPI GAGE1 GABRA3 GABRE GAGE2C GATA1 OPN1MW GJB1 GK GLA GPC3 GLUD2 CXCR3 LPAR4 GPR34 GRIA3 GRPR GUCY2F HSD17B10 HCFC1 HMGB3 HNRNPH2 HPRT1 ERAS HTR2C IDH3G IDS IGBP1 IGSF1 IL2RG IL13RA1 IL13RA2 IRAK1 KCND1 L1CAM LAMP2 PRICKLE3 SH2D1A MAGEA1 MAGEA2 MAGEA3 MAGEA4 MAGEA6 MAGEA8 MAGEA9 MAGEA10 MAGEA11 MAGEA12 MAGEB1 MAGEB2 MAGEB3 MAGEB4 MAOA MAOB MCF2 MECP2 FOXO4 CITED1 MSN MTM1 NAP1L2 NAP1L3 NDP NDUFA1 NHS NONO TBC1D25 OCRL OPHN1 OTC P2RY4 PAK3 CDK16 PDHA1 PDK3 CFP PFKFB1 PGK1 PHEX PHKA1 PHKA2 PIGA PIN4 PLP1 PLP2 PLS3 PLXNB3 POLA1 POU3F4 PPEF1 PRPS1 PRRG1 PSMD10 RBBP7 RBM3 OPN1LW RENBP RP2 RPGR RPL39 RPL36A RPS4X RPS6KA3 RS1 SAT1 SCML1 SH3BGRL SLC6A8 SLC16A2 SMARCA1 SMS SOX3 SSR4 SSX1 SSX2 SSX5 SSX4 CDKL5 SUV39H1 SYN1 SYP TAF1 SERPINA7 DYNLT3 TFE3 TIMP1 TSPAN7 TSPAN6 TRO TRPC5 UBA1 UBE2A SLC35A2 KDM6A WAS XIST XK XPNPEP2 ZFX ZIC3 ZNF711 ZNF182 ZNF41 ZNF75D ZNF157 RNF113A ZNF185 ZXDA ZRSR2 USP11 USP9X RBM10 KDM5C SMC1A NAA10 TMEM187 TKTL1 SRPX UXT CUL4B IRS4 OGT PIR INE2 INE1 CASK PAGE1 MTMR1 FGF16 AKAP4 APLN AP1S2 RTL8C SLC25A14 CLDN2 RGN AIFM1 REPS2 ZMYM3 BMP15 GPR50 MED14 TCEAL1 RAB33A TSIX ITM2A ARHGEF6 PCYT1B MAGED1 XAGE2 PAGE4 MORF4L2 GPRASP1 STARD8 JADE3 ARMCX2 HEPH MAGEC1 AMMECR1 MED12 ZBTB33 HDAC6 MAMLD1 HUWE1 PQBP1 BCAP31 ADGRG2 ATP6AP2 TENM1 SSX3 TIMM17B RRAGB SCML2 SLC9A6 ENOX2 PRDX4 EBP STAG2 RAI2 PLAC1 CYSLTR1 UTP14A ZNF275 PGRMC1 MAGED2 TMSB15A PIM2 MID2 IL1RAPL1 WDR45 TREX2 PRAF2 CA5B SLC6A14 KLF8 VSIG4 CNKSR2 IQSEC2 PHF8 SEPTIN6 ARHGEF9 ATP1B4 ACOT9 KCNE5 LDOC1 SMPX GSPT2 KIF4A FTSJ1 H2AP RTL8A IL1RAPL2 ITGB1BP2 SRPK3 GAGE12I GAGE2E BEX3 NOX1 NALF2 GPR82 GPKOW SRPX2 APEX2 RBMX PCDH11X RPS6KA6 P2RY10 HTATSF1 PCSK1N CCDC22 MCTS1 MAGEH1 FAM156A C1GALT1C1 SNX12 RPA4 PNMA3 UBQLN2 SH3KBP1 SPANXA1 NSDHL FOXP3 TBX22 ZDHHC9 RLIM TCEAL9 RAB9B LUZP4 PDZD11 PBDC1 TFDP3 ARMCX1 MBTPS2 MAGEC2 VGLL1 ARMCX3 TAF9B RBMX2 STK26 CPXCR1 CHIC1 FTHL17 GPR173 NLGN3 SASH3 TAF7L SPIN2A ARMCX6 WDR44 NDUFB11 GNL3L ERCC6L NUP62CL GDPD2 BCOR TBC1D8B FAM120C CT55 TMEM255A RADX NUDT11 RBM41 SAGE1 HAUS7 OTUD5 ZNF280C MTMR8 KRBOX4 TXLNG MBNL3 BEX1 HDAC8 GABRQ ZC4H2 NXT2 NKRF NXF5 NXF3 NXF2 KLHL4 TEX13B TEX13A TEX11 MOSPD1 BEX4 CTPS2 CHST7 TCEAL7 GRIPAP1 THOC2 ZNF630 CLTRN SHROOM4 KIAA1210 PCDH19 RTL9 PDZD4 LRCH2 MAGEE1 RAP2C MID1IP1 ACE2 TMEM35A EDA2R NYX BCORL1 DUSP21 STEEP1 DMRTC1 TSPYL2 TNMD PJA1 SPANXD SPANXC WDR13 PORCN ARMCX5 UPF3B WNK3 PRRG3 APOO HMGN5 NKAP RNF128 MAP7D3 MORC4 DIPK2B LONRF3 ALG13 MAGIX TCEAL4 TRMT2B POF1B TASL EFHC2 KLHL15 ESX1 GPRASP3 MAGED4B LAS1L GPR101 TMEM47 CD99L2 USP26 MAGT1 TMEM164 PHF6 FRMPD3 ZMAT1 RHOXF2 TMEM185A SLITRK2 GPR174 SLC9A7 BEX2 SLC7A3 PNMA6A TCEAL3 CCNB3 PPP1R3F FATE1 CCDC120 TSR2 HS6ST2 FRMD7 KLHL13 TGIF2LX VCF2 PAGE5 TCEAL8 CHRDL1 EOLA1 CCNQ RIPPLY1 SLC38A5 MMGT1 GCNA SYAP1 SYTL4 SYTL5 PNMA5 GPRASP2 ATG4A DACH2 SLITRK4 SPANXN3 MAGEC3 BEND2 PASD1 DCAF12L1 DGKK DNAAF6 PWWP3B FAM199X AMER1 APOOL HDX FUNDC1 ADGRG4 PTCHD1 MAGEB10 DCAF8L1 OTUD6A UPRT MAGEE2 MAGEB16 FOXR2 PNCK ZFP92 ACTRT1 GPR119 PAGE3 RBMXL3 DOCK11 SPIN4 ASB11 TCEAL2 PABPC5 RAB40A ASB12 AMOT CBLL2 CSAG1 FMR1NB FAAH2 ZXDB FAM47A ARHGAP36 RIBC1 AKAP14 RHOXF1 MAGEB6 CXorf65 AWAT1 AWAT2 ZDHHC15 USP51 TCEAL6 H2BW1 CXorf38 PABIR2 PABIR3 DDX53 TENT5D SPIN3 FAM47B SUPT20HL2 ZCCHC12 ARX XAGE3 XAGE5 NUDT10 CT83 LINC01560 SLC25A43 RTL3 NRK INTS6L ZNF449 VMA21 TMEM31 PAGE2 BRWD3 CXorf58 CT47A11 BCLAF3 MAP7D2 KLHL34 TAB3 MAGEA2B SSX7 RAB40AL ATP11C H2BW2 YIPF6 CFAP47 FAM133A MAGEB18 TMSB15B RTL5 NHSL2 PABPC1L2A NEXMIF BEX5 TCEAL5 VSIG1 ZC3H12B SATL1 DCAF12L2 RTL4 LHFPL1 ZNF81 ITIH6 LANCL3 MPC1L DCAF8L2 SOWAHD OR13H1 CCDC160 CXorf66 DGAT2L6 RAB41 MAGEB5 MAP3K15 SPACA5 USP27X PAGE2B ZCCHC13 UBE2NL CSAG3 GLOD5 ARL13A SLC25A53 XKRX YY2 MIRLET7F2 MIR105-1 MIR105-2 MIR106A MIR19B2 MIR221 MIR222 MIR223 MIR224 MIR98 RTL8B CT45A3 CT45A5 SPANXN4 PGAM4 FAM47C SPIN2B SPANXN1 SPANXN2 SPANXN5 MIR424 CT45A6 CT45A1 EOLA2 SSX4B JPX MIR448 MIR502 MIR503 MIR506 MIR508 MIR509-1 MIR510 ZNF674 DANT2 CT47B1 ZCCHC18 SMIM10 GAGE2B GAGE13 GAGE12G MAGEB17 PABPC1L2B PNMA6E XAGE1B XAGE1A CT47A7 SNORA11 MIR532 SSX2B FAM156B RHOXF2B CT47A10 CT47A9 CT47A8 CT47A6 CT47A5 CT47A4 CT47A3 CT47A2 CT47A1 MAGED4 MAGEA9B NXF2B OPN1MW2 DMRTC1B SPANXB1 SPANXA2 CT45A2 SPACA5B GAGE12J GAGE2D GAGE12C GAGE12B GAGE12E GAGE12H GAGE2A GAGE12F GAGE8 FMR1-AS1 MIR509-3 ARMCX3-AS1 GPR50-AS1 CXorf51A HSFX2 SUPT20HL1 CXorf49 PRR32 ARMCX4 GAGE12D CXorf49B CXorf51B FTX TRPC5OS MTRNR2L10 HSFX1 CT47A12 ARMCX5-GPRASP2 RPL36A-HNRNPH2 TCP11X2
- Associated Variants
- Single allele AND Syndromic X-linked intellectual disability Lubs type
- Associated Disease
- syndromic X-linked intellectual disability Lubs type
- Source Database
- ClinVar
- Description
- Single allele AND Syndromic X-linked intellectual disability Lubs type
- ClinVar Allele ID
- 614620
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000768455
- ClinVar Disease
- Syndromic X-linked intellectual disability Lubs type
- Observed Origin Sample
- unknown
Drugs