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Associated Genes: AANAT ABR ACACA ACADVL ASIC2 ACLY ACOX1 ACTG1 ADORA2B AP2B1 ALDH3A1 ALDH3A2 ALDOC ALOX12 ALOX12B ALOX15 ALOX15B AOC2 BIRC5 APOH ARL4D ARHGDIA ARRB2 ASGR1 ASGR2 ASPA ATP1B2 ATP2A3 ATP5MC1 ATP6V0A1 BLMH BRCA1 C1QBP FMNL1 CA4 CACNB1 CACNG1 CD7 CD68 CD79B CDC6 CDC27 CDK3 CHAD CHD3 CHRNB1 CHRNE CLTC CCR7 CNP COL1A1 COX10 COX11 CPD CLDN7 CRHR1 CRK CRYBA1 CSF3 CSH1 CSH2 CSHL1 CSNK1D SLC25A10 CTNS CYB561 ACE DDX5 DHX8 DLG4 DLX3 DLX4 DNAH9 DPH1 DRG2 DUSP3 DVL2 EFNB3 EIF4A1 EIF5A ENO3 ERBB2 ERN1 ETV4 EVI2A EVI2B EVPL EZH1 BPTF FASN FDXR FGF11 FOXJ1 FLII FLOT2 GAST FZD2 G6PC1 GAA GALK1 GCGR KAT2A GFAP GH1 GH2 GIP GNGT2 GP1BA CCR10 UTS2R GPS1 GPS2 GRB2 GRB7 GRN GRIN2C GUCY2D H3-3B HCRT HIC1 HLF HOXB1 HOXB2 HOXB3 HOXB4 HOXB5 HOXB6 HOXB7 HOXB8 HOXB9 HSD17B1 ICAM2 MRPL58 IFI35 IGFBP4 FOXK2 ITGA2B ITGA3 ITGAE ITGB3 ITGB4 JUP KCNJ2 KCNJ12 KCNJ16 KPNB1 KPNA2 KRT9 KRT10 KRT12 KRT13 KRT14 KRT15 KRT16 KRT17 KRT19 KRT31 KRT32 KRT33A KRT33B KRT34 KRT35 LASP1 LGALS3BP LGALS9 LHX1 LIG3 LLGL2 LLGL1 LPO NBR1 MAFG MAPT ADAM11 MAP3K3 MEOX1 MFAP4 MLLT6 MNT MPO MPP2 MPP3 TRIM37 MYH1 MYH2 MYH3 MYH4 MYH8 MYH10 MYL4 MYO1C MYO1D NAGLU NEUROD2 NF1 NFE2L1 NGFR NME1 NME2 NMT1 NOS2 NPTX1 NSF NUP88 OMG OR1D2 OR3A1 OR3A2 P2RX1 P2RX5 P4HB PAFAH1B1 PDE6G PDK2 PECAM1 SERPINF1 PER1 PEX12 PFAS PFN1 PHB1 PITPNA PLD2 SERPINF2 PMP22 PNMT SEPTIN4 POLR2A MED1 PPY PRKAR1A PRKCA MAPK7 MAP2K3 MAP2K6 PRPSAP1 PRPSAP2 PSMB3 PSMB6 PYY PSMC5 PSMD3 PSMD11 PSMD12 PYCR1 PCYT2 RAB5C RAC3 RAD51C RAD51D RARA RCVRN RFNG RPA1 RPL19 RPL23A RPL26 RPL27 RPL38 MRPL12 RPS6KB1 SCN4A SCO1 CCL1 CCL2 CCL3 CCL3L1 CCL4 CCL5 CCL7 CCL8 CCL11 CCL13 CCL14 CCL15 CCL16 CCL18 CCL23 SDF2 SEC14L1 SECTM1 MAP2K4 SRSF1 SRSF2 SGCA SGSH SHBG SHMT1 SLC2A4 SLC4A1 SLC6A4 SMARCD2 SMARCE1 SUMO2 SOX9 SOX15 SP2 SREBF1 SRP68 SSTR2 STAT3 STAT5A STAT5B SUPT4H1 SUPT6H VAMP2 TADA2A TBCD TBX2 HNF1B MLX THRA TIMP2 TK1 TNFAIP1 TOP2A TOP3A TP53 TRG-GCC2-6 TRK-TTT3-5 TRL-TAG1-1 TRQ-CTG1-5 TRQ-TTG1-1 TRR-TCT2-1 DNAJC7 TUBG1 UBB UBE2G1 UBTF TRPV1 VTN WNT3 WNT9B YWHAE ZNF18 PCGF2 TRIM25 VEZF1 RNF112 ZNF207 ZNF232 TAF15 RND2 COIL AKAP1 EPX AXIN2 OR1A1 OR1D5 OR1E1 OR1E2 OR1G1 OR3A3 PIP4K2B SLC25A11 SPOP DOC2B FOXN1 PPM1D CNTNAP1 GAS7 DGKE COPS3 CBX4 TCAP SCARF1 SKAP1 DNAH17 AOC3 BECN1 KRT38 KRT37 KRT36 TNK1 ABCC3 MYH13 TNFSF13 TNFSF12 RGS9 GALR2 TMEM11 KSR1 CDK5R1 SPHK1 CACNA1G HAP1 MAP3K14 SOCS3 TM4SF5 SPAG9 SLC13A2 UNC119 USP6 MTMR4 SLC16A6 SLC16A5 SLC16A3 RABEP1 SYNGR2 HGS KCNAB3 AURKB NOG TSPOAP1 CYTH1 ZNHIT3 GLP2R EFTUD2 RPL23 NHERF1 COG1 RECQL5 NTN1 STX8 PIGL PGS1 TBX4 RPH3AL FXR2 NPEPPS MPDU1 GOSR1 SPAG7 CCL4L2 GOSR2 NR1D1 NCOR1 TRAF4 AATK BLTP2 ULK2 CCDC144A ACAP1 TBKBP1 TMEM94 EIF4A3 PLEKHM1 KIAA0753 MED24 LRRC37A MRC2 SGSM2 ARHGAP44 HELZ HS3ST3B1 HS3ST3A1 MED13 HDAC5 TOM1L1 GJC1 TOB1 ALYREF PSME3 EIF1 NBR2 SLC35B1 DCAF7 CALCOCO2 RAMP2 ABCA10 ABCA9 ABCA8 PEMT BAIAP2 CLEC10A ATP5PD HOXB13 VAT1 APPBP2 MYBBP1A FBXW10 PRPF8 P3H4 ST6GALNAC2 HEXIM1 SPAG5 TRIM16 IGF2BP1 GNA13 CCT6B RAI1 KIF1C GRAP SEPTIN9 CD300C C1QL1 RUNDC3A STARD3 CBX1 RAB40B TLK2 DDX52 DUSP14 KAT7 AKAP10 POLG2 NXPH3 SNF8 SYNRG CD300A TMC6 DDX42 GABARAP CASC3 IKZF3 ZNF652 PPM1E NLRP1 ARHGEF15 ARSG EPN2 CEP131 SARM1 RAP1GAP2 CAMTA2 GPATCH8 KDM6B ZZEF1 GGA3 MPRIP JMJD6 EXOC7 CLUH SMG6 WSCD1 USP22 CTDNEP1 KCNH4 ABCA6 ABCA5 TNFRSF13B KCTD2 SUZ12 MMD PIK3R5 WBP2 CDC42EP4 ELP5 SHPK AIPL1 FSCN2 NOL11 DHRS7B KRT23 RNF167 TMEM98 POLDIP2 TBC1D29P TANC2 WSB1 NAT9 SENP3 OR1A2 PITPNC1 ERAL1 NARF AATF OR4D1 PELP1 B9D1 CACNG5 CACNG4 TUBG2 TMEM97 NKIRAS2 COA3 GIT1 RANGRF SAP30BP PSMC3IP SNX11 TIMM22 TBX21 NT5C SOCS7 CDR2L TAX1BP3 MINK1 GEMIN4 SOST MED31 DERL2 TVP23B GLOD4 MRPS7 YBX2 UTP18 RNFT1 JPT1 MYO15A TUBD1 DCXR RAPGEFL1 TACO1 ABI3 COPZ2 MRPL27 PIPOX AMZ2 ARL17A CRLF3 TRPV2 ANKFY1 ANAPC11 SIRT7 SLC25A39 MRPS23 PTRH2 RASD1 NLK LUC7L3 HIGD1B CDK12 INPP5K KRT20 NLE1 PIMREG SDK2 XAF1 FNDC8 FAM20A BORCS6 MBTD1 BCAS3 TMEM104 CWC25 ALKBH5 RNF43 TTC19 MKS1 MTNAP1 CCDC40 EPN3 WIPI1 SLC52A1 MED9 SLFN12 WRAP53 PNPO KLHL11 MRM3 SMG8 SLC47A1 TMEM100 VPS53 RHOT1 RSAD1 COPRS LRRC59 NCBP3 NPLOC4 TSR1 FAM222B PRR11 ADAP2 ST6GALNAC1 UTP6 TEX2 GSDMB GPRC5C TEX14 WDR45B DHX33 CA10 NT5M ATXN7L3 ADPRM CCDC47 PLSCR3 PLXDC1 LYZL6 CBX8 ZNF286A ZNF287 MIF4GD INTS2 CASKIN2 RPTOR NUFIP2 ZNF624 TAOK1 NLGN2 BAHCC1 USP36 ARHGAP23 PHF12 ZBTB4 RNF213 TNRC6C CXCL16 TRAPPC1 PCTP SCPEP1 ALOXE3 SLC25A19 ELAC2 FKBP10 SRR UBE2O HEATR6 DUS1L FN3K XYLT2 C17orf75 NXN DNAI2 TEKT3 SMURF2 ENGASE SPATA20 MRPL38 UBE2Z WNK4 HROB MIS12 GID4 ASPSCR1 METTL16 TMUB2 CARD14 DHX58 PHF23 MMP28 DHRS11 MFSD11 PRR15L CYBC1 ARMC7 CHMP6 RHBDF2 DHX40 FN3KRP OGFOD3 TEFM ZNF750 ACBD4 TLCD3A DCAKD GGNBP2 NUP85 ATAD5 MRM1 PLEKHH3 CTC1 DBF4B MYO19 ACSF2 FAAP100 CDK5RAP3 SP6 COASY SRCIN1 AARSD1 LIMD2 KCNH6 FAM117A NDEL1 VMP1 KRTAP1-3 KRTAP1-1 KRTAP9-9 KRTAP4-6 KRTAP2-1 PITPNM3 DRC3 EMC6 ODAD4 RILP TEKT1 KRTAP4-12 RAB34 TSPAN10 KRTAP1-5 KRTAP3-1 KRTAP3-2 KRTAP9-2 KRTAP9-3 KRTAP9-8 KRTAP17-1 HASPIN BRIP1 MYCBPAP QRICH2 NSRP1 PPP1R1B TBC1D3F ZMYND15 CAMKK1 RPAIN RNF135 MIEN1 MRPL45 VPS25 TMEM107 NAA38 TMEM101 PRAC1 RAB11FIP4 NEURL4 GHDC KRTAP4-4 ZNF594 KIF2B HES7 USP32 PPP1R9B SPATA22 CBX2 TXNDC17 VCF1 CORO6 TNS4 FBXL20 KRTAP9-4 KRTAP4-1 KRTAP4-5 KRTAP4-3 KRTAP4-2 KRTAP3-3 KRTAP2-4 FBF1 UNK SSH2 TP53I13 IFT20 LRRC46 SCRN2 CEP95 TRIM47 ANKRD40 ZNF830 SLFN11 RASL10B ATPAF2 TMEM88 STRADA PRR29 SPECC1 G6PC3 ASB16 OTOP2 PGAP3 MYOCD PIGS TTYH2 HSPB9 ORMDL3 SAT2 PLCD3 SLC46A1 TMEM106A LRRC37B CYGB RNF157 SMYD4 OSBPL7 C1QTNF1 NT5C3B ABHD15 TLCD1 PPP1R27 CNTROB FTSJ3 RFFL METTL23 HSF5 OR4D2 MSI2 SLC38A10 CANT1 USH1G CD300LB KIF19 ZPBP2 CYB5D1 OVCA2 USP43 KRBA2 CHCT1 SPATA32 HEXIM2 LSM12 CCDC43 CNTD1 TMEM132E WFIKKN2 B4GALNT2 SPACA3 SEZ6 ANKRD13B SLC43A2 CYB5D2 C17orf49 ZFP3 GGT6 SPNS2 EFCAB13 MRPL10 WDR81 TBC1D16 AFMID GJD3 KRT222 KRT40 ZSWIM7 MIEF2 SLC5A10 DYNLL2 SMCR8 MGAT5B TOM1L2 TEPSIN B3GNTL1 RBFOX3 CD300LF CD300LD-AS1 DNAH2 RTN4RL1 EFCAB3 SLC47A2 CDRT15 CFAP52 CCDC42 PIK3R6 ODF4 C17orf50 SLFN13 SLC35G3 UNC45B CD300LG KIF18B RUNDC1 EME1 TMEM199 PROCA1 DHRS13 KCTD11 NOTUM TMC8 TRIM16L WIPF2 KRT25 KRT10-AS1 ANKFN1 MARCHF10 MFSD6L SLFN5 NAGS RETREG3 TMEM92 PHOSPHO1 RHBDL3 TRPV3 SLC16A11 FBXO39 SPPL2C KRT28 KRT24 CEP112 DHRS7C TVP23C CENPV FLCN PLD6 ARHGAP27 ZNF385C SAMD14 LYRM9 SLC16A13 SPEM2 CENPX LRRC45 SLC39A11 TRIM65 UNC13D RDM1 SPNS3 GAS2L2 STH STXBP4 TBC1D28 TMEM256 TAC4 MYADML2 BCL6B CDRT15L2 NATD1 NPB HEATR9 FADS6 HID1 TSEN54 UBALD2 TMEM235 CCDC57 HEXD VMO1 C17orf58 MILR1 CDRT4 KANSL1 CFAP97D1 FAM171A2 MEIOC TTLL6 NEK8 PIGW C17orf78 CISD3 GSDMA SLC13A5 TMEM102 CAVIN1 SLC26A11 ENDOV GDPD1 NDUFAF8 TMEM105 LGALS9B METRNL TRARG1 KLHL10 RAB37 TMEM95 METTL2A C17orf67 ENPP7 OXLD1 CCDC137 ARL16 LINC02693 MSL1 CD300E SMTNL2 NACA2 KRT27 SLFN14 STAC2 OTOP3 SKA2 MCRIP1 GPR142 TBC1D26 ZACN KRT26 RFLNB PRAC2 FBXW10B SPEM1 EFCAB5 LRRC37A3 GLTPD2 INCA1 SCIMP C17orf100 SPDYE4 TMEM220 SHISA6 LRRC75A TMIGD1 CCL4L1 SPMAP1 CCDC103 RPRML YPEL2 LINC02875 BTBD17 ARL5C KRT39 SLC25A35 MYO18A LIAT1 MED11 GRAPL TMEM132E-DT TEX19 CUEDC1 MIR10A MIR132 MIR144 MIR152 MIR193A MIR195 MIR196A1 MIR21 MIR212 MIR22 TNFSF12-TNFSF13 TBC1D3B TBC1D3C CCL3L3 MXRA7 RNASEK GPR179 MIR338 LRRC37A2 FBXO47 MIR451A CPSF4L SMIM5 SLC35G6 RNF222 PIRT FAM83G EVPLL SEBOX KRTAP4-11 LGALS9C NME1-NME2 MIR33B BHLHA9 TLCD2 KRTAP4-8 KRTAP1-4 KRTAP2-2 KRTAP9-1 TBC1D3 TBC1D3H KRTAP2-3 PRCD SNORD3A C17orf107 SMIM6 CD300LD KRTAP4-9 KRTAP4-7 TEN1 C17orf99 EPOP LOC100288728 MTRNR2L1 LRRC3C KRTAP9-7 KRTAP16-1 HEXD-IT1 ARL17B LINC02876 SLFN12L MIR497HG KRTAP9-6 TVP23C-CDRT4 PTGES3L PTGES3L-AARSD1 DYNLL2-DT
Associated Variants: GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)
Source Database: ClinVar
Description: GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) AND See cases
ClinVar Allele ID: 435477
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2015-07-14
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000511439
Observed Origin Sample: not provided

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