Annotation Detail
Information
- Associated Genes
- AAMP ACADL ACP1 ACTG2 ACVR1 ACVR2A ACYP2 ADCY3 ADD2 ADRA2B AGXT ALK ALPI ALPP ALPG BIN1 ANXA4 AOX1 APOB RHOB RND3 ATIC ATP5MC3 ATP6V1B1 KIF1A AUP1 BARD1 BCS1L BCYRN1 BMPR2 BOK ZFP36L2 BUB1 CACNB4 CAD CALM2 CAPG CASP8 CASP10 CCNT2 CD8A CD8B CD28 CENPA CHN1 CHRNA1 CHRND CHRNG CLK1 CNGA3 COL3A1 COL4A3 COL4A4 COL5A2 COL6A3 COX5B CPS1 CREB1 ATF2 CRYBA2 CRYGA CRYGB CRYGC CRYGD CTLA4 CTNNA2 CYP1B1 CYP27A1 DARS1 DBI DCTN1 DDX1 DES DGUOK DLX1 DLX2 DNAH6 DYNC1I2 DNMT3A DOK1 DPP4 DTNB DTYMK DUSP2 E2F6 EEF1B2 EGR4 EMX1 EN1 EPAS1 EPHA4 ERBB4 ERCC3 FABP1 ACSL3 FAP EFEMP1 FHL2 FKBP1B FN1 FOSL2 FRZB FSHR GAD1 GALNT3 GBX2 GCG GCKR MSTN GFPT1 GGCX GLI2 GLS GPC1 GPD2 CMKLR2 GPR17 GPR35 GPR39 GRB14 MSH6 GTF3C2 GYPC HADHA HADHB HDLBP HK2 HNMT TLX2 HOXD1 HOXD3 HOXD4 HOXD8 HOXD9 HOXD10 HOXD11 HOXD12 HOXD13 HPCAL1 AGFG1 DNAJB2 HSPD1 HSPE1 FOXN2 HTR2B ID2 IDH1 SP110 IGFBP2 IGFBP5 IGKC IHH IL1A IL1B IL1R1 IL1RN CXCR1 CXCR2 INHA INHBB INPP1 INPP4A ITGA6 IRS1 ITGA4 ITGAV ITGB6 KCNF1 KCNJ3 KCNJ13 KCNK3 KCNS3 KHK KIF3C AFF3 LCT LHCGR LIMS1 LRP2 LTBP1 LY75 EPCAM MXD1 MAL MAP2 MAT2A MATN3 MCM6 MDH1 MEIS1 MGAT5 MPV17 MYO1B MSH2 MTIF2 MYCN MYL1 MYO7B NAB1 NCL NEB NDUFA10 NDUFB3 NDUFS1 SEPTIN2 NEU2 NEUROD1 NFE2L2 NPAS2 NPHP1 NPPC NR4A2 ODC1 ORC2 ORC4 OTX1 REG3A PAX3 PCBP1 PDE1A PDE6D PDK1 PEX13 VIT SERPINE2 PIGF PLCL1 PLEK PLGLB1 PMS1 POLR2D POMC POU3F3 PPM1B PPM1G PPP1CB PPP1R7 PPP3R1 PRKCE EIF2AK2 PROC PSMD1 PTH2R PTMA PTPN4 PTPRN RAB1A RALB RANBP2 RBMS1 REL REG1A REG1B SNORD20 RPE RPL31 RPL37A RPS7 RPS27A RRM2 RTKN SAG SCN1A SCN2A SCN3A SCN7A SCN9A SCTR CCL20 SDC1 SRSF7 SFTPB SIX3 SLC4A3 SLC1A4 SLC3A1 SLC8A1 SLC9A2 SLC11A1 SLC20A1 SNRPG SOS1 SOX11 SP3 SP100 SPAST SPP2 SPR SPTBN1 SRD5A2 SSB ITPRID2 STAT1 STAT4 STRN SULT1C2 ADAM17 TACR1 GCFC2 TFPI TGFA TIA1 TNFAIP6 TNP1 TNS1 TPO TSN EIPR1 TTN TUBA4A SUMO1 UCN UGP2 VIL1 VRK2 VSNL1 WIPF1 WNT6 XDH XPO1 XRCC5 ZAP70 ZNF2 ZNF142 SLC30A3 PXDN ALMS1 MOGS RNF103 PAX8 IL1R2 MALL CXCR4 FZD5 SCG2 DYSF FZD7 CAVIN2 NCK2 DUSP11 CUL3 KLF11 MAP4K3 PKP4 HAT1 DGKD AGPS PRKRA STK16 SLC25A12 KLF7 ABCB11 NCOA1 VAMP8 MARCO B3GALT1 ADAM23 SUCLG1 IL18RAP IL1RL2 IL18R1 NRP2 CFLAR ASAP2 PER2 ST3GAL5 SLC5A6 DDX18 EIF2B4 CDK5R2 KYNU TAF1B NAT8 NMI CNOT9 COX7A2L TMSB10 IL1RL1 LRRFIP1 STK17B ITGB1BP1 GPR55 TRIP12 GTF3C3 PPIG NRXN1 OTOF CIAO1 TGFBRAP1 HS6ST1 CRIPT ECEL1 MAP4K4 EIF2AK3 EIF4E2 ROCK2 CHST10 TP53I3 CIR1 MRPL33 BABAM2 PREPL CYTIP FEZ2 GCC2 TTLL4 SOCS5 EIF5B GREB1 BZW1 USP34 LAPTM4A HDAC4 RNF144A SNX17 SERTAD2 MRPL19 ZEB2 FARP2 TLK1 SUPT7L CD302 ARHGAP25 TANK BCL2L11 FARSB ABCB6 ACTR3 ACTR2 ARPC2 PREB ACTR1B ARL4C LRPPRC PDIA6 ABI2 CEBPZ DHRS9 TXNDC9 MPHOSPH10 CALCRL PSMD14 STAM2 RAMP1 SPEG LANCL1 NMUR1 SMYD5 KLHL41 MYCNOS C1D MERTK UBE2E3 STK25 SEMA4F CCT7 CCT4 GNLY CDC42EP3 STAMBP TGOLN2 MTX2 CGREF1 B3GNT2 USP39 TBR1 SIX2 MAP3K2 NCKAP1 VAMP5 MTHFD2 ARID5A PROKR1 RAB10 EDAR COPS8 GPR75 YWHAQ IMMT SNRNP27 GTF2A1L STON1 RAPGEF4 EMILIN1 CAPN10 TBC1D8 RABL2A GALNT5 NXPH2 GPR45 SP140 MGAT4A GPN1 IKZF2 COBLL1 AAK1 FASTKD2 MAPRE3 PLA2R1 RAB3GAP1 RPIA SLC4A1AP EFR3B SNRNP200 MYT1L WDR43 LPIN1 CEP68 PASK UBXN4 ATG4B PSME4 EXOC6B EHBP1 SATB2 CLASP1 OBSL1 PUM2 NCAPH RHOQ SF3B1 HAAO TMEM131 R3HDM1 DNPEP PSD4 WBP1 NTSR2 TMEFF2 SH3BP4 PRKD3 KCNE4 RASGRP3 NGEF QPCT GCA VAX2 SNORD82 MOB4 POLR1A CNRIP1 FAM98A PNKD UNC50 SNED1 GORASP2 SPATS2L RAB11FIP5 GIGYF2 EPC2 TRAF3IP1 ABCA12 IFT172 ARL5A HIBCH PTPN18 CNNM4 CNNM3 IL36RN SH3YL1 CNPPD1 STK36 IL36B IL37 IL36A SULT1C4 NFU1 ERLEC1 MMADHC BMP10 ZNF638 STK39 HTRA2 EML4 TRIB2 METTL5 LGALSL OLA1 LINC03124 GRHL1 TFCP2L1 ICOS GMPPA NRBP1 BAZ2B SLC40A1 KCNIP3 EHD3 SMARCAL1 CD207 ITSN2 ANO7 ARHGEF4 PDE11A TPRKB FAHD2A PRLH WDPCP MEMO1 THAP4 TRAPPC12 ASB3 INSIG2 CRIM1 ANKRD39 FAM178B RNF181 MRPL30 DNAJC27 ANKMY1 KRCC1 MRPL35 ATRAID PCYOX1 GULP1 REV1 NAT8B SCLY VPS54 NBAS LIPT1 NOP58 DYNC2LI1 SF3B6 YPEL5 CHMP3 FKBP7 ASB1 CPSF3 CAB39 MAP3K20 BCL11A LRP1B PRKAG3 PPIL3 SNTG2 DNAJC10 ATAD2B ETAA1 HEATR5B CCDC93 ASNSD1 UGT1A10 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A9 UGT1A4 UGT1A1 UGT1A3 FEV AFTPH MFSD6 TMEM214 RETSAT INO80D SEMA4C SLC35F6 C2orf42 TRMT61B PID1 PTCD3 PLEKHB2 ATG16L1 FANCL SRBD1 FIGN ANKZF1 RIF1 USP40 MOB1A STEAP3 ASXL2 ADI1 THNSL2 ACOXL WDR33 HJURP STRADB NDUFAF7 HES6 ASIC4 CNOT11 NAGK DOCK10 TTC27 SMPD4 TMEM127 PRPF40A SLC30A6 IWS1 LIMS2 KANSL3 MREG CCDC88A WDR12 MBD5 KDM3A ALLC PECR ARHGAP15 ZC3H15 CFC1 DNAH7 GKN1 IL36G RPRM CYP26B1 POLE4 KCNK12 UGGT1 KCMF1 DPYSL5 PNO1 STARD7 SLC19A4P MFF ACKR3 RNPEPL1 RTN4 TRIM54 PELI1 SLC39A10 TTC7A PPP4R3B SLC4A10 CYP20A1 SPC25 BIRC6 ERMN KIDINS220 MTA3 HECW2 WDR35 MARCHF4 WDFY1 NYAP2 DPP10 RDH14 EPB41L5 ALS2 ZDBF2 USP37 CWC22 ANKRD36B G6PC2 SLC4A5 CTDSP1 NLRC4 MPP4 SLC5A7 NIF3L1 AGBL5 LDAH THADA PCGEM1 RBKS GAL3ST2 TMBIM1 IFIH1 OSGEPL1 ATL2 ABCG5 ABCG8 RAB17 RNF25 HS1BP3 GMCL1 TTC31 ANAPC1 COPS7B RMND5A FNDC4 MARCHF7 NABP1 PAPOLG MRPS9 MRPS5 REEP1 RAPH1 CDK15 TMEM237 NBEAL1 MRPL44 SOWAHC PLEKHA3 TRAK2 BOLL COLEC11 PDCL3 TRPM8 ATG9A C2orf49 MLPH TMEM185B RETREG2 CENPO GLB1L MAIP1 SPAG16 CHPF SAP130 GALNT14 SCRN3 CCDC121 FASTKD1 SMC6 GTDC1 CLIP4 IQCA1 CARF TTC21B CAMKMT METTL8 GEMIN6 NHEJ1 FAM124B TM4SF20 CYBRD1 MAB21L4 NOL10 ANKRD53 CSRNP3 PGAP1 LRRTM4 DCAF17 MZT2B MAP3K19 UXS1 FBXO11 ARMC9 COQ10B SLC35F5 EFHD1 WDCP SPHKAP WNT10A SLC19A3 TSGA10 THSD7B THUMPD2 TMEM177 LNPK ILKAP CYRIA LMAN2L LBH TMEM163 ITM2C TCF7L1 INO80B AMMECR1L CDCA7 WDR54 ZRANB3 RAB6C WDR75 FAM161A EVA1A ANTXR1 POLR1B ELMOD3 RGPD5 SPATA31H1 RHBDD1 CHCHD5 YIPF4 PRADC1 C2orf88 ING5 CCDC115 NIFK ECRG4 ZNF512 ZC3H8 SANBR ST6GAL2 IL1F10 DPY30 MCEE LOXL3 ABHD1 PCGF1 MFSD9 PLCD4 SFT2D3 CCDC142 ZNF514 FAM136A TMEM87B ATOH8 TANC1 SELENOI LBX2 PNPT1 KCNH7 FER1L5 MCFD2 ATP6V1E2 CCDC74A DHX57 SESTD1 CCDC74B PKDCC ANKRD44 RSAD2 ZNF804A IFT70A DAPL1 CAPN13 TMEM169 DNER DRC1 IMP4 HNRNPLL MARS2 B3GNT7 NT5C1B SP140L SFXN5 ORMDL1 LIMS3 TUBA3E CFAP36 TEX261 TUBA3D STK11IP FMNL2 CCDC85A GALNT13 KLHL29 OSBPL6 NOSTRIN DIRC1 DNAAF10 MOGAT1 LYPD1 MRPL53 AGAP1 TWIST2 PARD3B PPP1R21 TRABD2A TMEM150A NUP35 XIRP2 TYW5 NMS LYG1 MITD1 DIS3L2 CMPK2 MBOAT2 CNTNAP5 TMEM18 FBLN7 NEU4 RBM45 C2orf73 TRIM43 BBS5 CFAP210 ACMSD ICA1L FAM168B CIB4 REG3G RFTN2 CLHC1 PLEKHH2 AP1S3 C2orf76 SGPP2 ACVR1C OSR1 TTC32 UBR3 KCTD18 FLACC1 ZNF513 SPATA3 LYPD6 LYPD6B GALM TMEM198 ZFAND2B TMEM178A CPO MDH1B C2orf50 SLC66A3 TMEM182 FBXO36 MTERF4 CCDC148 M1AP MYO3B TMEM37 UBE2F DUSP19 TTL CKAP2L ZNG1B TEKT4 SMYD1 C2orf15 OTOS COPS9 OR6B3 COMMD1 PROM2 ANKAR FBXO41 IFT70B GPAT2 ITPRIPL1 FAM117B TCF23 GAREM2 PUS10 SEPTIN10 KANSL1L PLB1 ZSWIM2 ZNF385B ERFE ARL6IP6 METTL21A CCNYL1 KLHL23 PPP1R1C SGO2 C2CD6 SLC38A11 CCDC140 SLC23A3 GPBAR1 FAHD2B LRATD1 RMDN2 GDF7 SLC16A14 ASPRV1 WDSUB1 UPP2 GPR155 DAW1 LONRF2 CCDC138 ADGRF3 TEX44 OXER1 TOGARAM2 FAM171B C1QL2 UBXN2A CLEC4F DQX1 KCNG3 CYS1 FOXD4L1 VWA3B CREG2 TET3 GKN2 SPMIP9 ANKRD23 APLF PIKFYVE KRTCAP3 TMEM17 SPRED2 TIGD1 AMER3 C2orf69 HNRNPA3 SPDYA ATP6V1C2 RNASEH1 LCLAT1 GPATCH11 CERS6 METAP1D LYG2 CFAP65 C2orf72 SH2D6 NT5DC4 CCDC150 RNF149 ALKAL2 CCDC141 STPG4 DNAJC5G ERICH2 IAH1 HYCC2 UNC80 RUFY4 RGPD4 DUSP28 STON1-GTF2A1L SPOPL CYP27C1 MROH2A ESPNL CIMIP2C PRR30 C2orf74 MSGN1 CRACDL FIGLA NOTO NCKAP5 FOXI3 EVX2 CDKL4 GPR148 LRRTM1 GEN1 FTCDNL1 PFN4 FAM228B ANKRD36 RBM43 CERKL CATIP RBM44 AQP12A ZC3H6 KLHL30 MFSD2B PCARE TMEM247 TSPYL6 C2orf78 BOLA3 C2orf81 C2orf68 SLC9A4 SP5 PLEKHM3 C2orf80 RESP18 SNORC OR6B2 PTRHD1 SULT6B1 DYTN LINC02898 EML6 PAIP2B RGPD1 ANKRD36C FSIP2 C2orf66 ASB18 VWC2L MIR10B MIR128-1 MIR149 MIR216A MIR217 MIR26B CDRT15P3 DNAJB3 ASTL CAPN14 SULT1C3 POTEE COA5 PHOSPHO2 CHAC2 MIR375 PJVK FBXO48 FAM110C PRR21 MSH2-OT1 ZNF285CP PRSS56 FAM228A TRIM43B POTEI CFC1B AQP12B RGPD3 POTEJ MZT2A RGPD8 D2HGDH POTEF DCDC2C LINC01873 RAD51AP2 RGPD6 DIRC3 RGPD2 MORN2 RFX8 OST4 TDRD15 NEMP2 SP9 RNU4ATAC ARHGEF33 LIMS4 MIR1258 GPR75-ASB3 SOS1-IT1 LY75-CD302 RNF103-CHMP3 NT5C1B-RDH14 LINC00570
- Associated Variants
- GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) AND See cases
- ClinVar Allele ID
- 436660
- 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/RCV000512056
- Observed Origin Sample
- not provided
Drugs