Annotation Detail
Information
- Associated Genes
- NAT1 NAT2 ADRA1A ANGPT2 ASAH1 ATP6V1B2 BLK BMP1 POLR3D BNIP3L CHRNA2 CTSB DEFA1 DEFA3 DEFA4 DEFA5 DEFA6 DEFB1 DEFB4A DPYSL2 EGR3 DMTN EPHX2 PTK2B FDFT1 FGL1 GATA4 GFRA2 GNRH1 LOXL2 LPL MSR1 MSRA NEFM NEFL NKX3-1 PCM1 PDGFRL PPP2R2A PPP3CC SFTPC SLC7A2 SLC18A1 STC1 TUSC3 TNKS ADAM7 TNFRSF10D TNFRSF10C TNFRSF10B TNFRSF10A FGF17 DOK2 MTMR7 MFHAS1 ENTPD4 PHYHIP SORBS3 NPM2 DLC1 SPAG11B PNMA2 ADAM28 LZTS1 XPO7 TRIM35 RHOBTB2 PSD3 SLC39A14 FGF20 ADAMDEC1 CNOT7 ZDHHC2 SLC25A37 KCTD9 PINX1 PIWIL2 INTS10 AGPAT5 CSGALNACT1 HR DEFB103B BIN3 MTUS1 TRMT9B CCAR2 SH2D4A PDLIM2 CSMD1 EBF2 FHIP2B MTMR9 MCPH1 PPP1R3B NUDT18 DOCK5 BIN3-IT1 REEP4 STMN4 SOX7 LINC00529 FAM167A SLC35G5 LINC00208 FAM167A-AS1 FAM86B1 ERI1 LONRF1 CHMP7 RP1L1 CLDN23 VPS37A NKX2-6 SGCZ DEFB104A LOC157273 PRAG1 PEBP4 CDCA2 MIR124-1HG C8orf48 R3HCC1 PRSS55 C8orf74 LGI3 DEFB105A DEFB106A DEFB107A DEFB130A NEIL2 LOC254896 XKR6 MICU3 LINC02153 LINC03019 PRSS51 LINC00965 USP17L2 XKR5 FAM90A3 FAM90A15 TNFRSF10A-DT USP17L8 USP17L7 USP17L1 MIR124-1 MIR320A DEFB103A FAM90A13 FAM90A5 FAM90A7 FAM90A16 FAM90A8 FAM90A18 FAM90A9 FAM90A10 FAM90A11 FAM90A24 MIR383 DEFB107B DEFB104B DEFB106B DEFB105B C8orf58 LINC02905 DEFB135 DEFB136 DEFB134 FAM85A DEFB109B USP17L4 FAM90A22 FAM90A23 FAM90A14 USP17L3 FAM90A12 FAM86B2 SPAG11A MIR597 MIR598 DEFA1B FAM90A20 FAM90A17 FAM90A19 ZNF705D LOC729732 FAM66B LOC100128993 TDH-AS1 PRR23D1 ZNF705G FAM66E ZNF705B FAM66D FAM66A PRR23D2 DEFB130B MCPH1-DT DEFB4B MIR1322 MIR548I3 MIR548H4 MIR548V MIR4286 MIR3926-2 MIR3926-1 FAM86B2-DT PIWIL2-DT LOXL2-AS1 MCPH1-AS1 MIR4659A MIR4660 MIR4659B GS1-24F4.2 MIR5692A2 LZTS1-AS1 LINC00681 LINC03021 LOC101928095 ASAH1-AS1 LOC101929128 LINC03093 LINC03022 PINX1-DT LOC101929237 LOC101929258 LOC101929269 LOC101929290 ADAM7-AS1 ADAM7-AS2 MTUS1-DT MIR6841 MIR6842 MIR6876 MIR8055 LINC03023 LOC102723313 PPP1R3B-DT LOC102725080 LOC105377785 LOC105377796 FAM85B LOC105379224 LOC105379230 LOC105379292 LOC105379301 LOC105379311 LOC105379314 LOC105379327 LOC105379331 SNORA99 LOC107522030 LOC107986876 CRE3 SNORD3F SNORD3I LOC110120689 LOC110120768 LOC110120769 LOC110120770 LOC110121280 LOC110121281 LOC111255642 LOC111255645 LOC111365225 LOC111465018 LOC111818956 LOC113788244 LOC113788245 LOC113788246 LOC113788268 LOC113788269 LOC113788270 LOC113788271 LOC113788272 LOC113788273 LOC113788274 LOC113788286 LOC113788289 LOC113788294 LOC114827823 LOC116186920 LOC116186921 LOC116186922 LOC116186923 LOC116186924 LOC116186925 HRURF ENTPD4-DT LOC121268919 LOC121268920 LOC121268921 LOC121294073 LOC121294074 LOC121294075 LOC121294076 LOC121331295 LOC121331296 LOC121740709 LOC121740710 LOC121740711 LOC121740712 LOC121740713 LINC02950 LOC123987607 LOC123987608 LOC123987609 LOC123987610 LOC123987611 LOC123987612 LOC123987613 LOC124049158 LOC124049159 LOC124049160 LOC124049161 LOC124049162 LOC124049163 LOC124049164 LOC124049165 LOC124049166 LOC124110275 LOC124110276 LOC124110277 LOC124153111 LOC124153112 LOC124153113 LOC124153114 LOC124153115 LOC124153116 LOC124153117 LOC124153118 LOC124153119 LOC124153120 LOC124153121 LOC124153122 LOC124153123 LOC124153124 LOC124153125 LOC124153126 LOC124153127 LOC124153128 LOC124153129 LOC124153130 LOC124153131 LOC124153132 LOC124901868 LINC02949 LOC126860283 LOC126860284 LOC126860285 LOC126860286 LOC126860287 LOC126860288 LOC126860289 LOC126860290 LOC126860291 LOC126860292 LOC126860293 LOC126860294 LOC126860295 LOC126860296 LOC126860297 LOC126860298 LOC126860299 LOC126860300 LOC126860301 LOC126860302 LOC126860303 LOC126860304 LOC126860305 LOC126860306 LOC126860307 LOC126860308 LOC126860309 LOC126860310 LOC126860311 LOC126860312 LOC126860313 LOC126860314 LOC126860315 LOC126860316 LOC126860317 LOC126860318 LOC126860319 LOC126860320 LOC126860321 LOC126860322 LOC126860323 LOC126860324 LOC126860325 LOC126860326 LOC126860327 LOC126860328 LOC126860329 LOC126860330 LOC126860331 LOC126860332 LOC128462397 LOC128772327 LOC128772328 LOC128966594 LOC129389953 LOC129389954 LOC129389955 LOC129389956 LOC129389957 LOC129389958 LOC129389959 LOC129389960 LOC129389961 LOC129389962 LOC129389963 LOC129389964 LOC129389965 LOC129389966 LOC129389967 LOC129389968 LOC129389969 LOC129389970 LOC129389971 LOC129999779 LOC129999780 LOC129999781 LOC129999782 LOC129999783 LOC129999784 LOC129999785 LOC129999786 LOC129999787 LOC129999788 LOC129999789 LOC129999790 LOC129999791 LOC129999792 LOC129999793 LOC129999794 LOC129999795 LOC129999796 LOC129999797 LOC129999798 LOC129999799 LOC129999800 LOC129999801 LOC129999802 LOC129999803 LOC129999804 LOC129999805 LOC129999806 LOC129999807 LOC129999808 LOC129999809 LOC129999810 LOC129999811 LOC129999812 LOC129999813 LOC129999814 LOC129999815 LOC129999816 LOC129999817 LOC129999818 LOC129999819 LOC129999820 LOC129999821 LOC129999822 LOC129999823 LOC129999824 LOC129999825 LOC129999826 LOC129999827 LOC129999828 LOC129999829 LOC129999830 LOC129999831 LOC129999832 LOC129999833 LOC129999834 LOC129999835 LOC129999836 LOC129999837 LOC129999838 LOC129999839 LOC129999840 LOC129999841 LOC129999842 LOC129999843 LOC129999844 LOC129999845 LOC129999846 LOC129999847 LOC129999848 LOC129999849 LOC129999850 LOC129999851 LOC129999852 LOC129999853 LOC129999854 LOC129999855 LOC129999856 LOC129999857 LOC129999858 LOC129999859 LOC129999860 LOC129999861 LOC129999862 LOC129999863 LOC129999864 LOC129999865 LOC129999866 LOC129999867 LOC129999868 LOC129999869 LOC129999870 LOC129999871 LOC129999872 LOC129999873 LOC129999874 LOC129999875 LOC129999876 LOC129999877 LOC129999878 LOC129999879 LOC129999880 LOC129999881 LOC129999882 LOC129999883 LOC129999884 LOC129999885 LOC129999886 LOC129999887 LOC129999888 LOC129999889 LOC129999890 LOC129999891 LOC129999892 LOC129999893 LOC129999894 LOC129999895 LOC129999896 LOC129999897 LOC129999898 LOC129999899 LOC129999900 LOC129999901 LOC129999902 LOC129999903 LOC129999904 LOC129999905 LOC129999906 LOC129999907 LOC129999908 LOC129999909 LOC129999910 LOC129999911 LOC129999912 LOC129999913 LOC129999914 LOC129999915 LOC129999916 LOC129999917 LOC129999918 LOC129999919 LOC129999920 LOC129999921 LOC129999922 LOC129999923 LOC129999924 LOC129999925 LOC129999926 LOC129999927 LOC129999928 LOC129999929 LOC129999930 LOC129999931 LOC129999932 LOC129999933 LOC129999934 LOC129999935 LOC129999936 LOC129999937 LOC129999938 LOC129999939 LOC129999940 LOC129999941 LOC129999942 LOC129999943 LOC129999944 LOC129999945 LOC129999946 LOC129999947 LOC129999948 LOC129999949 LOC129999950 LOC129999951 LOC129999952 LOC129999953 LOC129999954 LOC129999955 LOC129999956 LOC129999957 LOC129999958 LOC129999959 LOC129999960 LOC129999961 LOC129999962 LOC129999963 LOC129999964 LOC129999965 LOC129999966 LOC129999967 LOC129999968 LOC129999969 LOC129999970 LOC129999971 LOC129999972 LOC129999973 LOC129999974 LOC129999975 LOC129999976 LOC129999977 LOC129999978 LOC129999979 LOC129999980 LOC129999981 LOC129999982 LOC129999983 LOC129999984 LOC129999985 LOC129999986 LOC129999987 LOC129999988 LOC129999989 LOC129999990 LOC129999991 LOC129999992 LOC129999993 LOC129999994 LOC129999995 LOC129999996 LOC129999997 LOC129999998 LOC129999999 LOC130000000 LOC130000001 LOC130000002 LOC130000003 LOC130000004 LOC130000005 LOC130000006 LOC130000007 LOC130000008 LOC130000009 LOC130000010 LOC130000011 LOC130000012 LOC130000013 LOC130000014 LOC130000015 LOC130000016 LOC130000017 LOC130000018 LOC130000019 LOC130000020 LOC130000021 LOC130000022 LOC130000023 LOC130000024 LOC130000025 LOC130000026 LOC130000027 LOC130000028 LOC130000029 LOC130000030 LOC130000031 LOC130000032 LOC130000033 LOC130000034 LOC130000035 LOC130000036 LOC130000037 LOC130000038 LOC130000039 LOC130000040 LOC130000041 LOC130000042 LOC130000043 LOC130000044 LOC130000045 LOC130000046 LOC130000047 LOC130000048 LOC130000049 LOC130000050 LOC130000051 LOC130000052 LOC130000053 LOC130000054 LOC130000055 LOC130000056 LOC130000057 LOC130000058 LOC130000059 LOC130000060 LOC130000061 LOC130000062 LOC130000063 LOC130000064 LOC130000065 LOC130000066 LOC130000067 LOC130000068 LOC130000069 LOC130000070 LOC130000071 LOC130000072 LOC130000073 LOC130000074 LOC130000075 LOC130000076 LOC130000077 LOC130000078 LOC130000079 LOC130000080 LOC130000081 LOC130000082 LOC130000083 LOC130000084 LOC130000085 LOC130000086 LOC130000087 LOC130000088 LOC132089561 LOC132089562 LOC132089563 LOC132089564 LOC132089565 LOC132089566 LOC132089567 LOC132089568 LOC132089569 LOC132089570 LOC132089571 LOC132089572 LOC132089573 LOC132089574 LOC132089575 LOC132089576 LOC132089577 LOC132089578 LOC132089579 LOC132089580 LOC132089581 LOC132089582 LOC132089583 LOC132089584 LOC132089585 LOC132089586 LOC132089587 LOC132089588 LOC132089589 LOC132089590 LOC132089591 LOC132089592 LOC132089593 LOC132089594 LOC132089595 LOC132089596 LOC132089598 LOC132089602 LOC132089603 LOC132089604 LOC132090783 LOC132090784 LOC132090785 LOC132205968 LOC132205969
- Associated Variants
-
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 AND See cases
- ClinVar Allele ID
- 170881
- 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/RCV000148252
- Observed Origin Sample
- not provided
Drugs