Annotation Detail

Information
Associated Genes
ACAT1 ACRV1 BIRC2 BIRC3 APLP2 APOA1 APOA4 APOC3 ARCN1 ATM FXYD2 CXCR5 CASP1 CASP4 CASP5 CBL CD3D CD3E CD3G CHEK1 CRYAB DDX6 DDX10 DLAT DPAGT1 DRD2 ETS1 FDX1 FLI1 SLC37A4 GRIA4 GRIK4 GUCY1A2 H2AX HMBS HSPA8 HSPB2 HTR3A IL10RA IL18 STT3A KCNJ1 KCNJ5 VWA5A MCAM KMT2A MMP1 MMP3 MMP7 MMP8 MMP10 MMP12 MMP13 NCAM1 NFRKB NNMT NPAT NRGN OPCML PAFAH1B2 PGR POU2AF1 PPP2R1B PTS NECTIN1 RDX RPS25 SC5D SCN2B SCN4B SDHD ST3GAL4 SLN SORL1 SRPRA ST14 TAGLN TECTA THY1 TRPC6 UPK2 ZBTB16 ZNF202 CUL5 BARX2 ZPR1 USP2 PCSK7 HTR3B ZW10 MMP20 UBE4A EI24 FEZ1 ARHGAP32 C2CD2L RBM7 MPZL2 YAP1 HYOU1 ATP5MG ADAMTS8 TREH CEP164 IGSF9B EXPH5 PHLDB1 SIK2 NCAPD3 ARHGEF12 SIK3 VSIG2 BACE1 TRIM29 CADM1 POU2F3 HINFP REXO2 OR8B8 OR8G1 OR10D3 TIMM8B OR8B2 ACAD8 B3GAT1 DCPS ZBTB44 THYN1 DDX25 NTM CDON SIDT2 TRAPPC4 SPA17 FXYD6 CNTN5 SIAE C11orf71 ROBO4 SLC35F2 RAB39A BTG4 NXPE4 TTC12 NKAPD1 ELMOD1 FOXRED1 SCN3B VPS11 TEX12 CRTAM TMPRSS4 IFT46 PRDM10 DSCAML1 GRAMD1B CEP126 ARHGAP20 USP28 CARD18 AASDHPPT PKNOX2 TP53AIP1 MMP27 ABCG4 ROBO3 CFAP68 RNF26 OR10G6 FAM118B DYNC2H1 NLRX1 MSANTD2 ALG9 CLMP NHERF4 JHY CCDC15 PDGFD TMPRSS5 PUS3 MFRP JAM3 BCO2 TMPRSS13 DCUN1D5 MSANTD4 KIRREL3 BUD13 TMEM25 RPUSD4 TBRG1 UBASH3B CFAP300 SNORD14C SNORD14D SNORD14E DIXDC1 ZC3H12C GLB1L2 ESAM ALKBH8 FDXACB1 C11orf52 VPS26B GLB1L3 TIRAP CARD16 C1QTNF5 TMEM123 PANX3 APOA5 TMEM45B POU2AF3 PIH1D2 NXPE1 NXPE2 JAML ARHGAP42 KBTBD3 CWF19L2 POGLUT3 LAYN TTC36 PATE1 C11orf65 ADAMTS15 MPZL3 KCNJ5-AS1 HYLS1 TMEM218 SLC37A2 OR8B12 OR8G5 OR10G8 OR10G9 OR10S1 OR6T1 OR4D5 TBCEL TLCD5 SPATA19 HEPACAM OAF ANGPTL5 ANKK1 RNF214 LINC02762 LINC00900 BCL9L FOXR1 DRC12 OR8D1 OR8D2 OR8B4 KIRREL3-AS3 LINC02873 B3GAT1-DT CENATAC TMEM225 OR8D4 VSIG10L2 POU2AF2 PLET1 LINC02764 OR8G3P BSX OR6X1 OR6M1 OR10G4 OR10G7 OR8B3 OR8A1 C11orf87 COLCA1 HOATZ MIR100HG PATE2 PATE4 GSEC LOC399975 SNX19 LOC403312 MIRLET7A2 MIR100 MIR125B1 MIR34B MIR34C DDI1 BLID CARD17P PRDM10-DT HEPN1 CLDN25 ZBTB44-DT LINC02743 LOC649133 MIR34BHG LINC02714 LINC02731 ARHGAP42-AS1 LOC100131626 LOC100132078 LOC100132686 PATE3 TRK-TTT2-1 NCAM1-AS1 BACE1-AS MIR4301 MIR3167 USP2-AS1 MIR3920 CASP12 MSANTD2-AS1 SENCR LINC02551 LOC100507548 SMIM35 HSPB2-C11orf52 FXYD6-FXYD2 MIR4697 MIR4493 MIR4491 MIR4492 MIR4693 LOC100652768 KIRREL3-AS1 KIRREL3-AS2 NTM-IT OPCML-IT1 PGR-AS1 TMEM123-DT MMP20-AS1 LOC101928535 LINC02763 LOC101928847 LOC101928940 LOC101928985 LINC02702 TTC36-AS1 LOC101929208 LOC101929227 ESAM-AS1 LOC101929427 LOC101929473 LINC02712 ETS1-AS1 LOC101929538 LINC01395 NTM-AS1 LOC101929653 MIR6756 MIR6090 MIR6716 MIR8052 LOC102723838 LINC02552 LINC02703 NECTIN1-DT PKNOX2-DT APOA1-AS PDGFDDN LINC02719 LINC02715 LINC02732 LINC02550 CADM1-AS1 LOC105369509 NECTIN1-AS1 LINC02744 LOC105369532 LOC105369535 SORL1-AS1 LINC02727 PKNOX2-AS1 STT3A-AS1 TIRAP-AS1 LOC105369558 LINC02725 LINC02098 LINC02706 LINC02697 LOC106865368 CENATAC-DT LOC107984399 LINC02730 LOC108165612 LOC108165613 LOC108281156 LOC108353823 LOC108491825 FRA11B SNORD13I SNORD150 SNORD153 LINC02151 LOC110120853 LOC110120944 LOC110121342 LOC110121415 LOC110121418 LOC110121460 LOC111365219 LOC111413012 LOC111429625 LOC111464985 LOC111465015 LOC111718489 LOC111982889 LOC111982891 LOC111982892 LOC111982893 LOC111982894 LOC112042777 LOC112042778 LOC112042779 LOC112042780 LOC112042783 LOC112042784 LOC112042785 LOC112042786 LOC112061819 LOC112061820 LOC112061821 LOC112061822 LOC112061823 LOC112067710 LOC112067711 MIR10526 LOC113939918 LOC113939919 LOC114803469 LOC116225302 LOC116225303 LOC116225304 LOC116225305 LOC116225306 LOC116225307 TBCEL-TECTA LOC118567325 LOC121392936 LOC121392937 LOC121392938 LOC121392939 LOC121392940 LOC121392941 LOC121392942 LOC121392943 LOC121392944 LOC121392945 LOC121392946 LOC121392947 LOC121392948 LOC121392949 LOC121392950 LOC121392951 LOC121392952 LOC121392953 LOC121392954 LOC121832819 LOC121832820 LOC121832821 LOC121832822 LOC121832823 LOC121832824 BUD13-DT FXYD6-AS1 LOC124625825 LOC124625826 LOC124625827 LOC124625828 LOC124625830 LOC124625831 LOC124625832 LOC124625833 LOC124625834 LOC124625835 LOC124625836 LOC124625837 LOC124625838 LOC124625839 LOC124625840 LOC124625841 LOC124625842 LOC124625843 LOC124625844 LOC124625847 LOC124625848 LOC124625849 LOC124625850 LOC124625851 LOC124625852 LOC124625853 LOC124625854 LOC124625855 LOC124625856 LOC124625857 LOC124625858 LOC124625859 LOC124625860 LOC124625861 LOC124625862 LOC124625863 LOC124625864 LOC124625865 LOC124625866 LOC124625867 LOC124625868 LOC124625870 LOC124625871 LOC124625872 LOC124625873 LOC124625874 LOC124625875 TTC12-DT LOC126861312 LOC126861313 LOC126861314 LOC126861315 LOC126861316 LOC126861317 LOC126861318 LOC126861319 LOC126861320 LOC126861321 LOC126861322 LOC126861323 LOC126861324 LOC126861325 LOC126861326 LOC126861327 LOC126861328 LOC126861329 LOC126861330 LOC126861331 LOC126861332 LOC126861333 LOC126861334 LOC126861335 LOC126861336 LOC126861337 LOC126861338 LOC126861339 LOC126861340 LOC126861341 LOC126861342 LOC126861343 LOC126861344 LOC126861345 LOC126861346 LOC126861347 LOC126861348 LOC126861349 LOC126861350 LOC126861351 LOC126861352 LOC126861353 LOC126861354 LOC126861355 LOC126861356 LOC126861357 LOC126861358 LOC126861359 LOC126861360 LOC126861361 LOC126861362 LOC126861363 LOC126861364 LOC126861365 LOC126861366 LOC126861367 LOC126861368 LOC126861369 LOC126861370 LOC126861371 LOC126861372 LOC126861373 LOC126861374 LOC126861375 LOC126861376 LOC126861377 LOC126861378 LOC126861379 LOC126861380 LOC126861381 LOC126861382 LOC126861383 LOC126861384 LOC126861385 LOC126861386 LOC126861387 LOC126861388 LOC126861389 LOC126861390 LOC126861391 LOC126861392 LOC126861393 LOC126861394 LOC126861395 LOC126861396 LOC126861397 LOC126861398 LOC126861399 LOC126861400 LOC126861401 LOC126861402 LOC126861403 LOC126861404 LOC126861405 LOC126861406 LOC126861407 LOC126861408 LOC126861409 LOC127823033 HYOU1-AS1 LOC128462392 LOC128462393 LOC128462394 LOC128462411 LOC128772354 LOC128772355 LOC128772356 LOC128772357 LOC128772358 LOC128772359 LOC128772360 LOC128772361 LOC128772362 LOC128772363 LOC128772364 LOC128772365 LOC128772366 LOC128772367 LOC128772368 LOC128772369 LOC128772370 LOC128772371 LOC128772372 LOC128772373 LOC129390347 LOC129390348 LOC129390349 LOC129390350 LOC129390351 LOC129390352 LOC129390353 LOC129390354 LOC129390355 LOC129390356 LOC129390357 LOC129390358 LOC129390359 LOC129390360 LOC129390361 LOC129390362 LOC129390363 LOC129390364 LOC129390365 LOC129390366 LOC129390367 LOC129390368 LOC129390369 LOC129390370 LOC129390371 LOC129390372 LOC129390373 LOC129390374 LOC129390375 LOC129390376 LOC129390377 LOC129390378 LOC129390379 LOC129390380 LOC129390381 LOC129390382 LOC129390383 LOC129390384 LOC130006632 LOC130006633 LOC130006634 LOC130006635 LOC130006636 LOC130006637 LOC130006638 LOC130006639 LOC130006640 LOC130006641 LOC130006642 LOC130006643 LOC130006644 LOC130006645 LOC130006646 LOC130006647 LOC130006648 LOC130006649 LOC130006650 LOC130006651 LOC130006652 LOC130006653 LOC130006654 LOC130006655 LOC130006656 LOC130006657 LOC130006658 LOC130006659 LOC130006660 LOC130006661 LOC130006662 LOC130006663 LOC130006664 LOC130006665 LOC130006666 LOC130006667 LOC130006668 LOC130006669 LOC130006670 LOC130006671 LOC130006672 LOC130006673 LOC130006674 LOC130006675 LOC130006676 LOC130006677 LOC130006678 LOC130006679 LOC130006680 LOC130006681 LOC130006682 LOC130006683 LOC130006684 LOC130006685 LOC130006686 LOC130006687 LOC130006688 LOC130006689 LOC130006690 LOC130006691 LOC130006692 LOC130006693 LOC130006694 LOC130006695 LOC130006696 LOC130006697 LOC130006698 LOC130006699 LOC130006700 LOC130006701 LOC130006702 LOC130006703 LOC130006704 LOC130006705 LOC130006706 LOC130006707 LOC130006708 LOC130006709 LOC130006710 LOC130006711 LOC130006712 LOC130006713 LOC130006714 LOC130006715 LOC130006716 LOC130006717 LOC130006718 LOC130006719 LOC130006720 LOC130006721 LOC130006722 LOC130006723 LOC130006724 LOC130006725 LOC130006726 LOC130006727 LOC130006728 LOC130006729 LOC130006730 LOC130006731 LOC130006732 LOC130006733 LOC130006734 LOC130006735 LOC130006736 LOC130006737 LOC130006738 LOC130006739 LOC130006740 LOC130006741 LOC130006742 LOC130006743 LOC130006744 LOC130006745 LOC130006746 LOC130006747 LOC130006748 LOC130006749 LOC130006750 LOC130006751 LOC130006752 LOC130006753 LOC130006754 LOC130006755 LOC130006756 LOC130006757 LOC130006758 LOC130006759 LOC130006760 LOC130006761 LOC130006762 LOC130006763 LOC130006764 LOC130006765 LOC130006766 LOC130006767 LOC130006768 LOC130006769 LOC130006770 LOC130006771 LOC130006772 LOC130006773 LOC130006774 LOC130006775 LOC130006776 LOC130006777 LOC130006778 LOC130006779 LOC130006780 LOC130006781 LOC130006782 LOC130006783 LOC130006784 LOC130006785 LOC130006786 LOC130006787 LOC130006788 LOC130006789 LOC130006790 LOC130006791 LOC130006792 LOC130006793 LOC130006794 LOC130006795 LOC130006796 LOC130006797 LOC130006798 LOC130006799 LOC130006800 LOC130006801 LOC130006802 LOC130006803 LOC130006804 LOC130006805 LOC130006806 LOC130006807 LOC130006808 LOC130006809 LOC130006810 LOC130006811 LOC130006812 LOC130006813 LOC130006814 LOC130006815 LOC130006816 LOC130006817 LOC130006818 LOC130006819 LOC130006820 LOC130006821 LOC130006822 LOC130006823 LOC130006824 LOC130006825 LOC130006826 LOC130006827 LOC130006828 LOC130006829 LOC130006830 LOC130006831 LOC130006832 LOC130006833 LOC130006834 LOC130006835 LOC130006836 LOC130006837 LOC130006838 LOC130006839 LOC130006840 LOC130006841 LOC130006842 LOC130006843 LOC130006844 LOC130006845 LOC130006846 LOC130006847 LOC130006848 LOC130006849 LOC130006850 LOC130006851 LOC130006852 LOC130006853 LOC130006854 LOC130006855 LOC130006856 LOC130006857 LOC130006858 LOC130006859 LOC130006860 LOC130006861 LOC130006862 LOC130006863 LOC130006864 LOC130006865 LOC130006866 LOC130006867 LOC130006868 LOC130006869 LOC130006870 LOC130006871 LOC130006872 LOC130006873 LOC130006874 LOC130006875 LOC130006876 LOC130006877 LOC130006878 LOC130006879 LOC130006880 LOC130006881 LOC130006882 LOC130006883 LOC130006884 LOC130006885 LOC130006886 LOC130006887 LOC130006888 LOC130006889 LOC130006890 LOC130006891 LOC130006892 LOC130006893 LOC130006894 LOC130006895 LOC130006896 LOC130006897 LOC130006898 LOC130006899 LOC130006900 LOC130006901 LOC130006902 LOC130006903 LOC130006904 LOC130006905 LOC130006906 LOC130006907 LOC130006908 LOC130006909 LOC130006910 LOC130006911 LOC130006912 LOC130006913 LOC130006914 LOC130006915 LOC130006916 LOC130006917 LOC130006918 LOC130006919 LOC130006920 LOC130006921 LOC130006922 LOC130006923 LOC130006924 LOC130006925 LOC130006926 LOC130006927 LOC130006928 LOC130006929 LOC130006930 LOC130006931 LOC130006932 LOC130006933 LOC130006934 LOC130006935 LOC130006936 LOC130006937 LOC130006938 LOC130006939 LOC130006940 LOC130006941 LOC130006942 LOC130006943 LOC130006944 LOC130006945 LOC130006946 LOC130006947 LOC130006948 LOC130006949 LOC130006950 LOC130006951 LOC130006952 LOC130006953 LOC130006954 LOC130006955 LOC130006956 LOC130006957 LOC130006958 LOC130006959 LOC130006960 LOC130006961 LOC130006962 LOC130006963 LOC130006964 LOC130006965 LOC130006966 LOC130006967 LOC130006968 LOC130006969 LOC130006970 LOC130006971 LOC130006972 LOC130006973 LOC130006974 LOC130006975 LOC130006976 LOC130006977 LOC130006978 LOC130006979 LOC130006980 LOC130006981 LOC130006982 LOC130006983 LOC130006984 LOC130006985 LOC130006986 LOC130006987 LOC130006988 LOC130006989 LOC130006990 LOC130006991 LOC130006992 LOC130006993 LOC130006994 LOC130006995 LOC130006996 LOC130006997 LOC130006998 LOC130006999 LOC130007000 LOC130007001 LOC130007002 LOC130007003 LOC130007004 LOC130007005 LOC130007006 LOC130007007 LOC130007008 LOC130007009 LOC130007010 LOC130007011 LOC130007012 LOC130007013 LOC130007014 LOC130007015 LOC130007016 LOC130007017 LOC130007018 LOC130007019 LOC130007020 LOC130007021 LOC130007022 LOC130007023 LOC130007024 LOC130007025 LOC130007026 LOC130007027 LOC130007028 LOC130007029 LOC130007030 LOC130007031 LOC130007032 LOC130007033 LOC130007034 LOC130007035 LOC130007036 LOC130007037 LOC130007038 LOC130007039 LOC130007040 LOC130007041 LOC130007042 LOC130007043 LOC130007044 LOC130007045 LOC130007046 LOC130007047 LOC130007048 LOC130007049 LOC130007050 LOC130007051 LOC130007052 LOC130007053 LOC130007054 LOC130007055 LOC130007056 LOC130007057 LOC130007058 LOC130007059 LOC130007060 LOC130007061 LOC130007062 LOC130007063 LOC130007064 LOC130007065 LOC130007066 LOC130007067 LOC130007068 LOC130007069 LOC130007070 LOC130007071 LOC130007072 LOC130007073 LOC130007074 LOC130007075 LOC130007076 LOC130007077 LOC130007078 LOC130007079 LOC130007080 LOC130007081 LOC130007082 LOC130007083 LOC130007084 LOC130007085 LOC130007086 LOC130007087 LOC130007088 LOC130007089 LOC130007090 LOC130007091 LOC130007092 LOC130007093 LOC130007094 LOC130007095 LOC130007096 LOC130007097 LOC130007098 LOC130007099 LOC130007100 LOC130007101 LOC130007102 LOC130007103 LOC130007104 LOC130007105 LOC130007106 LOC130007107 LOC130007108 LOC130007109 LOC130007110 LOC130007111 LOC130007112 LOC130007113 LOC130007114 LOC130007115 LOC130007116 LOC130007117 LOC130007118 LOC130007119 LOC130007120 LOC130007121 LOC130007122 LOC130007123 LOC130007124 LOC130007125 LOC130007126 LOC130007127 LOC130007128 LOC130007129 LOC132089885 LOC132089886 LOC132089887 LOC132089888 LOC132089889 LOC132089890 LOC132089891 LOC132089892 LOC132089893 LOC132089894 LOC132089895 LOC132089896 LOC132089900 LOC132089901 LOC132089902 LOC132089903 LOC132089904 LOC132089905 LOC132089906 LOC132089907 LOC132089908 LOC132090840 LOC132090841 LOC132090842 LOC132211105
Associated Variants
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3
Source Database
ClinVar
Description
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 AND See cases
ClinVar Allele ID
74367
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000053638
Observed Origin Sample
not provided
Drugs