Annotation Detail
Information
- Associated Genes
- ABCB7 AGTR2 ABCD1 SLC25A5 XIAP AR ARHGAP4 ARR3 ATP2B3 ATP6AP1 ATP7A ATRX AVPR2 BGN BRS3 BTK CAPN6 CD40LG CDR1 CDX4 CETN2 CHM CLIC2 CNGA2 COL4A5 COL4A6 COX7B CSTF2 CTAG1B TEX28 CYLC1 DCX TIMM8A DIAPH2 DKC1 DLG3 DNASE1L1 DRP2 TSC22D3 DUSP9 EDA EFNB1 ELF4 EMD F8 F9 ACSL4 GPC4 FGF13 FHL1 FLNA FMR1 AFF2 CENPI G6PD GABRA3 GABRE OPN1MW GDI1 GJB1 GLA GPC3 GLUD2 CXCR3 LPAR4 GRIA3 GUCY2F HCFC1 HMGB3 HNRNPH2 HPRT1 HTR2C IDH3G IDS IGBP1 IGSF1 IL2RG IL13RA1 IL13RA2 IRAK1 L1CAM LAMP2 SH2D1A MAGEA1 MAGEA2 MAGEA3 MAGEA4 MAGEA6 MAGEA8 MAGEA9 MAGEA10 MAGEA11 MAGEA12 MCF2 MECP2 FOXO4 MPP1 CITED1 MSN MTCP1 MTM1 NAP1L2 NAP1L3 NDUFA1 NONO OCRL OPHN1 P2RY4 PAK3 PGK1 PHKA1 PIN4 PLP1 PLS3 PLXNB3 POU3F4 PRPS1 PSMD10 OPN1LW RENBP RPL10 RPL39 RPL36A RPS4X SH3BGRL SLC6A8 SLC16A2 SMARCA1 SOX3 SSR4 TAF1 TAFAZZIN SERPINA7 TSPAN6 TRPC5 UBE2A VBP1 XIST XPNPEP2 ZIC3 ZNF711 ZNF75D RNF113A ZNF185 ZXDA NAA10 F8A1 UBL4A TMEM187 LAGE3 SLC10A3 TKTL1 CUL4B IRS4 OGT IKBKG MTMR1 FGF16 APLN RTL8C SLC25A14 CLDN2 FAM50A AIFM1 ZMYM3 GPR50 TCEAL1 RAB33A TSIX ITM2A ARHGEF6 MORF4L2 GPRASP1 STARD8 ARMCX2 HEPH MAGEC1 AMMECR1 MED12 ZBTB33 MAMLD1 BCAP31 TENM1 SLC9A6 ENOX2 STAG2 PLAC1 CYSLTR1 UTP14A ZNF275 PGRMC1 TMSB15A MID2 TREX2 SLC6A14 VSIG4 SEPTIN6 ARHGEF9 ATP1B4 KCNE5 LDOC1 KIF4A RTL8A IL1RAPL2 ITGB1BP2 SRPK3 BEX3 NOX1 NALF2 SRPX2 RBMX PCDH11X RPS6KA6 P2RY10 HTATSF1 MCTS1 C1GALT1C1 SNX12 RPA4 PNMA3 SPANXA1 CTAG2 NSDHL TBX22 ZDHHC9 RLIM TCEAL9 RAB9B LUZP4 PDZD11 PBDC1 TFDP3 ARMCX1 MAGEC2 VGLL1 ARMCX3 TAF9B RBMX2 STK26 CPXCR1 CHIC1 NLGN3 SASH3 TAF7L ARMCX6 WDR44 ERCC6L NUP62CL GDPD2 TBC1D8B CT55 TMEM255A RADX TMLHE RBM41 SAGE1 PLXNA3 HAUS7 ZNF280C MTMR8 MBNL3 BEX1 HDAC8 GABRQ ZC4H2 NXT2 NKRF NXF5 NXF3 NXF2 KLHL4 TEX13B TEX13A TEX11 MOSPD1 BEX4 TCEAL7 THOC2 KIAA1210 PCDH19 RTL9 PDZD4 LRCH2 MAGEE1 RAP2C TMEM35A FAM3A EDA2R BCORL1 STEEP1 DMRTC1 TNMD PJA1 SPANXD SPANXC ARMCX5 UPF3B FUNDC2 PRRG3 BRCC3 HMGN5 NKAP RNF128 MAP7D3 MORC4 LONRF3 ALG13 TCEAL4 TRMT2B POF1B ESX1 GPRASP3 LAS1L GPR101 CD99L2 H2AB3 USP26 MAGT1 TMEM164 PHF6 FRMPD3 ZMAT1 RHOXF2 TMEM185A SLITRK2 GPR174 BEX2 SLC7A3 PNMA6A TCEAL3 FATE1 HS6ST2 FRMD7 KLHL13 TGIF2LX TCEAL8 CHRDL1 EOLA1 CCNQ RIPPLY1 MMGT1 GCNA SYTL4 PNMA5 GPRASP2 ATG4A RAB39B DACH2 SLITRK4 SPANXN3 MAGEC3 PASD1 DCAF12L1 DNAAF6 PWWP3B FAM199X AMER1 APOOL HDX ADGRG4 OTUD6A UPRT MAGEE2 GAB3 PNCK ZFP92 ACTRT1 GPR119 RBMXL3 DOCK11 SPIN4 TCEAL2 PABPC5 RAB40A ASB12 AMOT CSAG1 FMR1NB FAAH2 ZXDB ARHGAP36 AKAP14 RHOXF1 CXorf65 AWAT1 AWAT2 ZDHHC15 TCEAL6 H2BW1 PABIR2 PABIR3 TENT5D ZCCHC12 CT83 SLC25A43 RTL3 NRK INTS6L ZNF449 VMA21 TMEM31 CTAG1A BRWD3 CT47A11 MAGEA2B RAB40AL ATP11C H2BW2 YIPF6 FAM133A TMSB15B RTL5 NHSL2 PABPC1L2A NEXMIF BEX5 TCEAL5 VSIG1 ZC3H12B SATL1 DCAF12L2 RTL4 LHFPL1 SOWAHD OR13H1 CCDC160 CXorf66 DGAT2L6 RAB41 ZCCHC13 UBE2NL CSAG3 ARL13A SLC25A53 XKRX MIR105-1 MIR105-2 MIR106A MIR19B2 MIR223 MIR224 RTL8B CT45A3 CT45A5 SPANXN4 PGAM4 H2AB2 H2AB1 F8A2 F8A3 SPANXN1 SPANXN2 MIR424 CT45A6 CT45A1 EOLA2 JPX MIR448 MIR503 MIR506 MIR508 MIR509-1 MIR510 DANT2 CT47B1 ZCCHC18 SMIM10 PABPC1L2B PNMA6E CT47A7 RHOXF2B CT47A10 CT47A9 CT47A8 CT47A6 CT47A5 CT47A4 CT47A3 CT47A2 CT47A1 MAGEA9B NXF2B OPN1MW2 DMRTC1B SPANXB1 SPANXA2 CT45A2 FMR1-AS1 MIR509-3 ARMCX3-AS1 GPR50-AS1 CXorf51A HSFX2 CXorf49 PRR32 ARMCX4 SMIM9 CXorf49B CXorf51B CMC4 FTX TRPC5OS HSFX1 CT47A12 ARMCX5-GPRASP2 RPL36A-HNRNPH2 TCP11X2
- Associated Variants
- GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 AND See cases
- ClinVar Allele ID
- 436308
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-10-22
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000512173
- Observed Origin Sample
- not provided
Drugs