Annotation Detail
Information
- Associated Genes
- AADAC APOD DVL3 EHHADH EIF4A2 EIF4G1 HRG HES1 IL1RAP KNG1 KPNA4 LPP MELTF MLF1 MME MUC4 OPA1 PCYT1A SERPINI1 SERPINI2 PIK3CA PPP1R2 PSMD2 PTX3 SNORA63 HLTF SOX2 SEC62 TM4SF4 B3GALNT1 TNFSF10 EIF2B5 CLDN1 SLC33A1 ADIPOQ RUBCN ECE2 TSC22D2 SMC4 ABCC5 KCNMB2 IGF2BP2 SLITRK3 NLGN1 NCBP2 PLCH1 MCF2L2 UBXN7 LAMP3 KCNMB3 GOLIM4 SCHIP1 COMMD2 RSRC1 PEX5L DCUN1D1 KLHL24 TBCCD1 ABCF3 MYNN EIF5A2 SUCNR1 MCCC1 LXN SLC7A14 RTP4 MAGEF1 FNDC3B P2RY12 PHC3 ARL14 PIGZ B3GNT5 ATP13A4 FYTTD1 ACTRT3 MGC2889 LRCH3 CEP19 KLHL6 VWA5B2 TMEM44 MED12L CLRN1-AS1 TTC14 PPM1L WDR49 LRRC34 MB21D2 XXYLT1 LINC02877 CCDC50 PYDC2 NCBP2AS2 DHX36 HTR3C DYNLT2B SMCO1 TRIM59 CCDC39 LINC00880 EHHADH-AS1 LPP-AS2 LRRIQ4 SAMD7 AADACL2 GPR149 RTP2 OSTN ATP13A5 WDR53 NRROS MBNL1-AS1 C3orf80 LINC01994 FLJ42393 ATP13A3-DT LINC00885 MIR15B MIR16-2 SNORD2 SNORA4 IGF2BP2-AS1 MINDY4B LINC01192 IQCJ SCARNA7 MIR551B MIR569 MIR570 WWTR1-AS1 LINC02012 LINC00887 TRIM59-IFT80 MIR1224 MIR1248 MIR1263 MIR3137 IQCJ-SCHIP1 LINC01208 LINC00578 LINC02036 MELTF-AS1 DLG1-AS1 LINC02032 ARHGEF26-AS1 STRIT1 LINC00501 LPP-AS1 ETV5-AS1 OPA1-AS1 HLTF-AS1 LMLN-AS1 LINC01840 KCNAB1-AS2 KCNAB1-AS1 TM4SF1-AS1 ADIPOQ-AS1 CCDC39-AS1 YEATS2-AS1 LINC01213 LINC01214 LINC01487 SLC7A14-AS1 LINC01209 PIK3CA-DT LOC101929106 LOC101929130 LINC02037 LINC01063 MIR6828 LINC02015 LOC102724604 LINC02031 PYDC2-AS1 KCNMB2-AS1 LINC01991 LINC02013 LINC02038 LINC02048 LINC01972 LOC105374297 LOC105374308 LOC105374313 HTR3E-AS1 WWTR1-IT1 LINC01998 LOC108281160 LOC108281177 LOC108281178 SNORA63D LOC110120606 LOC110120632 LOC110120723 LOC110120724 LOC110120733 LOC110120734 LOC110120755 LOC110121064 ACTL6A FETUB BCHE BCL6 BDH1 AP2M1 CLCN2 CPN2 CRYGS DLG1 EPHB3 FGF12 GP5 IL12A MBNL1 MIR4797 NDUFB5 CLDN11 P2RY1 PAK2 PLD1 PRKCI RAP2B RARRES1 RPL35A TRA2B SHOX2 SI SIAH2 ST6GAL1 CLRN1 KCNAB1 GMPS MAP3K13 CLDN16 PDCD10 TNIK VPS8 WWTR1 TIPARP ARHGEF26 SERP1 GPR171 NMD3 P2RY13 GPR87 PIGX LSG1 PARL PLAAT1 MRPL47 SENP2 GNB4 ZMAT3 VEPH1 TBL1XR1 ZBBX MAP6D1 SPATA16 EIF2A HPS3 GFM1 LMLN TM4SF19 TM4SF18 RPL39L DNAJC19 OTOL1 FAM131A ZDHHC19 LRRC15 FAM43A ERICH6 TMEM207 RTP1 LIPH HTR3D RPL22L1 SLC51A FBXO45 MUC20 LINC02052 UTS2B ANKUB1 LEKR1 TMEM212 MIR28 LOC646903 LINC00886 LINC01100 MIR922 TNK2-AS1 LOC100131635 LOC100287290 LINC00881 MIR3919 LINC02082 TM4SF19-DYNLT2B MIR4448 MIR4789 MIR5186 MIR5588 MIR548AQ ABCC5-AS1 FGF12-AS1 FGF12-AS2 FGF12-AS3 NCBP2-AS1 NLGN1-AS1 KLHL6-AS1 TPRG1-AS2 UBXN7-AS1 PLCH1-AS1 PLCH1-AS2 TPRG1-AS1 LINC01014 XXYLT1-AS1 LINC02067 ERICH6-AS1 LOC101928105 AADACL2-AS1 LOC101928166 IL12A-AS1 PEX5L-AS2 TTC14-DT LOC101928882 P3H2-AS1 ATP13A4-AS1 LINC01983 MIR7977 MIR6829 LINC02043 LINC01322 LINC02045 LINC02046 LOC107133517 LOC107986163 LINC02020 LOC110120993 LOC110121069 LOC110121092 LOC110121102 LOC114004375 LOC114004376 LOC114004377 LOC114827824 LOC114827826 LOC114827843 LOC115995527 LOC115995528 LOC115995529 LOC115995530 LOC115995531 LOC115995532 LOC115995533 LOC115995534 LOC115995535 LOC115995536 LOC115995537 LOC115995538 PPM1L-DT LOC121048717 LOC121048718 LOC121048719 LOC121048720 LOC121048721 LOC121048722 LOC121048723 LOC121048724 LOC121048725 LOC121048726 LOC121048727 LOC121048728 LOC121048729 LOC121048730 LOC121048731 LOC121048732 LOC121048733 LOC121048734 LOC121048735 LOC121048736 LOC121725156 LOC121725157 LOC121725158 LOC121725159 LOC121725160 LOC121725161 LOC121725162 LOC121725163 LOC121725164 LOC121725165 LOC121725166 LOC121725167 LOC123192012 LOC123192013 LOC123192014 LOC123192015 LOC123192016 LOC123192017 LOC123192018 LOC123192019 LOC123192020 LOC123192021 LOC123230394 LOC123230395 LOC123230396 LOC123230397 LOC123230398 LOC123230399 LOC123230400 LOC123230401 LOC123230402 LOC123230405 LOC123230406 LOC123230407 LOC123230408 LOC123230409 LOC123230410 LOC123230411 LOC123230412 LOC123230413 LOC123230414 LOC123230415 LOC123256940 LOC123256941 LOC123256942 LOC123256943 LOC123256944 LOC123256945 LOC123256946 LOC123256947 LOC123256948 LOC123256949 LOC123256950 LOC123256951 LOC123256952 LOC123256953 LOC126806878 LOC126806879 LOC126806880 LOC126806881 LOC126806882 LOC126806883 LOC126806884 LOC126806885 LOC126806886 LOC126806887 LOC126806888 LOC126806889 LOC126806890 LOC126806891 LOC126806892 LOC126806893 LOC126806894 LOC126806895 LOC126806896 LOC126806897 AGTR1 AHSG CP CPA3 CPB1 DGKG ECT2 ETV5 MECOM GHSR GYG1 TM4SF1 PFN2 POLR2H MASP1 RFC4 SKIL SLC2A2 SSR3 SST TERC TFRC THPO FXR1 TP63 CHRD USP13 P2RY14 TNK2 ALG3 RNF13 ATP11B ACAP2 GPR160 ZNF639 SELENOT DNAJB11 P3H2 MFN1 YEATS2 CCNL1 NCEH1 IFT80 MFSD1 ATP13A3 LRRC31 IQCG TMEM41A CAMK2N2 SPTSSB RNF168 SENP5 NAALADL2 HTR3E IGSF10 C3orf33 C3orf70 TPRG1 LINC02028 SOX2-OT MIR570HG GMNC LINC02026 SNORA81 SNORD66 MIR944 SNAR-I TRV-AAC1-1 TIPARP-AS1 LINC02053 SNHG33 TMEM44-AS1 LINC01968 NAALADL2-AS3 TM4SF19-AS1 TBL1XR1-AS1 ATP13A5-AS1 TMEM212-AS1 NAALADL2-AS2 NAALADL2-AS1 IQCJ-SCHIP1-AS1 MLF1-DT LINC01206 XXYLT1-AS2 LINC02023 LINC02069 LOC102724479 LINC01327 LINC01324 SIAH2-AS1 LINC02066 LINC02006 LINC03109 LINC02029 LOC105374194 LINC01997 MECOM-AS1 LINC02068 LOC105374235 LINC01995 ATP11B-DT EIF2B5-DT LINC02054 LINC01839 HRG-AS1 LINC02041 OSTN-AS1 LOC106660625 LOC108449887 SNORA63B SNORA63E LOC110121110 LOC110121137 LOC110121144 LOC110121146 LOC110121239 EEF1AKMT4-ECE2 LOC110806306 LOC111242783 LOC111242785 LOC111413008 LOC112268458 LOC112935924 LOC112935925 LOC112935926 LINC02917 TMEM44-AS2 LOC126806924 LOC126806925 LOC126806926 LOC126806927 LOC126806928 LOC126806929 LOC126806930 LOC110121014 LOC110121026 LOC110121033 EEF1AKMT4 UC.134 LOC111162620 LOC111162621 LOC111365195 LOC111464993 LOC111828515 LOC112935896 LOC112935897 LOC112935898 LOC112935899 LOC112935900 LOC112935901 LOC112935904 LOC112935905 LOC112935906 LOC112935907 LOC112935908 LOC112935909 LOC112935910 LOC112935911 LOC112935912 LOC112935913 LOC112935914 LOC112935917 LOC112935918 LOC112935919 LOC112935920 LOC112935921 LOC112935922 LOC112935923 BCL6-AS1 LOC123256954 LOC123256955 LOC123453198 LOC123453199 LOC123453200 LOC123453201 LOC123453202 LOC123453203 LOC123464470 LOC123464471 LOC123464472 LOC123464473 LOC123464474 LOC123464476 LOC123464477 LOC123464478 LOC123464479 LOC123464480 LOC123464481 LOC123464482 LOC123464483 LOC123464484 LOC123464485 LOC123464486 LOC123464487 LOC123464488 LOC123464489 LOC123464490 LOC123464491 LOC123464492 LOC123464493 LOC123464494 LOC123464495 LOC123464496 LOC123464497 LOC123464498 LOC123464499 LOC123464500 LOC123464501 LOC123464502 LOC123464503 LOC123464504 LOC123464505 LOC123464506 LOC126806838 LOC126806839 LOC126806840 LOC126806841 LOC126806842 LOC126806843 LOC126806844 LOC126806845 LOC126806846 LOC126806847 LOC126806848 LOC126806849 LOC126806850 LOC126806851 LOC126806852 LOC126806853 LOC126806854 LOC126806855 LOC126806856 LOC126806857 LOC126806858 LOC126806859 LOC126806860 LOC126806861 LOC126806862 LOC126806863 LOC126806864 LOC126806865 LOC126806866 LOC126806867 LOC126806868 LOC126806869 LOC126806898 LOC126806899 LOC126806900 LOC126806901 LOC126806902 LOC126806903 LOC126806904 LOC126806905 LOC126806906 LOC126806907 LOC126806908 LOC126806909 LOC126806910 LOC126806911 LOC126806912 LOC126806913 LOC126806914 LOC126806915 LOC126806916 LOC126806917 LOC126806918 LOC126806919 LOC126806920 LOC126806921 LOC126806922 LOC126806923 TM4SF18-AS1 LOC129389145 LOC129389146 LOC129389147 LOC129389148 LOC129389149 LOC129389150 LOC129389151 LOC129389152 LOC129389153 LOC129389154 LOC129389155 LOC129389156 LOC129389157 LOC129389158 LOC129389159 LOC129389160 LOC129389161 LOC129389162 LOC129937734 LOC129937735 LOC129937736 LOC129937737 LOC129937738 LOC129937739 LOC129937740 LOC129937741 LOC129937742 LOC129937743 LOC129937744 LOC129937745 LOC129937746 LOC129937747 LOC129937748 LOC129937749 LOC129937750 LOC129937751 LOC129937752 LOC129937753 LOC129937754 LOC129937755 LOC129937860 LOC129937861 LOC129937862 LOC129937863 LOC129937864 LOC129937865 LOC129937866 LOC129937867 LOC129937868 LOC129937869 LOC129937870 LOC129937871 LOC129937872 LOC129937873 LOC129937874 LOC129937875 LOC129937876 LOC129937877 LOC129937878 LOC129937879 LOC129937880 LOC129937881 LOC129937882 LOC129937883 LOC129937884 LOC129937885 LOC129937886 LOC129937887 LOC126806931 LOC126806932 LOC126806933 LOC126806934 LOC126806935 LOC126806936 LOC126806937 LOC126806938 LOC128772257 LOC128772258 LOC128772259 LOC128772260 LOC128772261 LOC129389163 LOC129389164 LOC129389165 LOC129389166 LOC129389167 LOC129389168 LOC129389169 LOC129389170 LOC129389171 LOC129389172 LOC129389173 LOC129389174 LOC129389175 LOC129389176 LOC129389177 LOC129389178 LOC129389179 LOC129389180 LOC129389181 LOC129389182 LOC129389183 LOC129389184 LOC129389185 LOC129389186 LOC129389187 LOC129389188 LOC129389189 LOC129389190 LOC129389191 LOC129389192 LOC129389193 LOC129389194 LOC129389195 LOC129389196 LOC129389197 LOC129389198 LOC129389199 LOC129389200 LOC129389201 LOC129937808 LOC129937809 LOC129937810 LOC129937811 LOC129937812 LOC129937813 LOC129937814 LOC129937815 LOC129937816 LOC129937817 LOC129937818 LOC129937819 LOC129937820 LOC129937821 LOC129937822 LOC129937823 LOC129937824 LOC129937825 LOC129937826 LOC129937827 LOC129937828 LOC129937829 LOC129937830 LOC129937831 LOC129937832 LOC129937833 LOC129937834 LOC129937835 LOC129937836 LOC129937837 LOC129937838 LOC129937839 LOC129937840 LOC129937841 LOC129937842 LOC129937843 LOC129937844 LOC129937845 LOC129937846 LOC129937847 LOC129937848 LOC129937849 LOC129937850 LOC129937851 LOC129937852 LOC129937853 LOC129937854 LOC129937855 LOC129937856 LOC129937857 LOC129937858 LOC129937859 LOC129937964 LOC129937965 LOC129937966 LOC129937967 LOC129937968 LOC129937969 LOC129937970 LOC126806870 LOC126806871 LOC126806872 LOC126806873 LOC126806874 LOC126806875 LOC126806876 LOC126806877 LOC129937756 LOC129937757 LOC129937758 LOC129937759 LOC129937760 LOC129937761 LOC129937762 LOC129937763 LOC129937764 LOC129937765 LOC129937766 LOC129937767 LOC129937768 LOC129937769 LOC129937770 LOC129937771 LOC129937772 LOC129937773 LOC129937774 LOC129937775 LOC129937776 LOC129937777 LOC129937778 LOC129937779 LOC129937780 LOC129937781 LOC129937782 LOC129937783 LOC129937784 LOC129937785 LOC129937786 LOC129937787 LOC129937788 LOC129937789 LOC129937790 LOC129937791 LOC129937792 LOC129937793 LOC129937794 LOC129937795 LOC129937796 LOC129937797 LOC129937798 LOC129937799 LOC129937800 LOC129937801 LOC129937802 LOC129937803 LOC129937804 LOC129937805 LOC129937806 LOC129937807 LOC129937912 LOC129937913 LOC129937914 LOC129937915 LOC129937916 LOC129937917 LOC129937918 LOC129937919 LOC129937920 LOC129937921 LOC129937922 LOC129937923 LOC129937924 LOC129937925 LOC129937926 LOC129937927 LOC129937928 LOC129937929 LOC129937930 LOC129937931 LOC129937932 LOC129937933 LOC129937934 LOC129937935 LOC129937936 LOC129937937 LOC129937938 LOC129937939 LOC129937940 LOC129937941 LOC129937942 LOC129937943 LOC129937944 LOC129937945 LOC129937946 LOC129937947 LOC129937948 LOC129937949 LOC129937950 LOC129937951 LOC129937952 LOC129937953 LOC129937954 LOC129937955 LOC129937956 LOC129937957 LOC129937958 LOC129937959 LOC129937960 LOC129937961 LOC129937962 LOC129937963 LOC129938016 LOC129938017 LOC129938018 LOC129938019 LOC129938020 LOC129938021 LOC129938022 LOC129938023 LOC129938024 LOC129938025 LOC129938026 LOC129938027 LOC129938028 LOC129938029 LOC129938030 LOC129938031 LOC129938032 LOC129938033 LOC129938034 LOC129938035 LOC129938036 LOC129938037 LOC129938038 LOC129938039 LOC129938040 LOC129938041 LOC129938042 LOC129938043 LOC129938044 LOC129938045 LOC129938046 LOC129938047 LOC129938048 LOC129938049 LOC129938050 LOC129938051 LOC129938052 LOC129938053 LOC129938054 LOC129938055 LOC129938056 LOC129938057 LOC129938058 LOC129938059 LOC129938060 LOC129938061 LOC129938062 LOC129938063 LOC129938064 LOC129938065 LOC129938066 LOC129938067 LOC129938120 LOC129938121 LOC129938122 LOC129938123 LOC129938124 LOC129938125 LOC129938126 LOC129938127 LOC129938128 LOC129938129 LOC129938130 LOC129938131 LOC129938132 LOC129938133 LOC129938134 LOC129938135 LOC129938136 LOC129938137 LOC129938138 LOC129938139 LOC129938140 LOC129938141 LOC129938142 LOC129938143 LOC129938144 LOC129938145 LOC129938146 LOC129938147 LOC129938148 LOC129938149 LOC129938150 LOC129938151 LOC129938152 LOC129938153 LOC129938154 LOC129938155 LOC129938156 LOC129938157 LOC129938158 LOC129938159 LOC129938160 LOC129938161 LOC129938162 LOC129938163 LOC129938164 LOC129938165 LOC129938166 LOC129938167 LOC129938168 LOC129938169 LOC129938170 LOC129937971 LOC129937972 LOC129937973 LOC129937974 LOC129937975 LOC129937976 LOC129937977 LOC129937978 LOC129937979 LOC129937980 LOC129937981 LOC129937982 LOC129937983 LOC129937984 LOC129937985 LOC129937986 LOC129937987 LOC129937988 LOC129937989 LOC129937990 LOC129937991 LOC129937992 LOC129937993 LOC129937994 LOC129937995 LOC129937996 LOC129937997 LOC129937998 LOC129937999 LOC129938000 LOC129938001 LOC129938002 LOC129938003 LOC129938004 LOC129938005 LOC129938006 LOC129938007 LOC129938008 LOC129938009 LOC129938010 LOC129938011 LOC129938012 LOC129938013 LOC129938014 LOC129938015 LOC129938068 LOC129938069 LOC129938070 LOC129938071 LOC129938072 LOC129938073 LOC129938074 LOC129938075 LOC129938076 LOC129938077 LOC129938078 LOC129938079 LOC129938080 LOC129938081 LOC129938082 LOC129938083 LOC129938084 LOC129938085 LOC129938086 LOC129938087 LOC129938088 LOC129938089 LOC129938090 LOC129938091 LOC129938092 LOC129938093 LOC129938094 LOC129938095 LOC129938096 LOC129938097 LOC129938098 LOC129938099 LOC129938100 LOC129938101 LOC129938102 LOC129938103 LOC129938104 LOC129938105 LOC129938106 LOC129938107 LOC129938108 LOC129938109 LOC129938110 LOC129938111 LOC129938112 LOC129938113 LOC129938114 LOC129938115 LOC129938116 LOC129938117 LOC129938118 LOC129938119 LOC129938172 LOC129938173 LOC129938174 LOC129938175 LOC129938176 LOC129938177 LOC129938178 LOC129938179 LOC129938180 LOC129938181 LOC129938182 LOC129937888 LOC129937889 LOC129937890 LOC129937891 LOC129937892 LOC129937893 LOC129937894 LOC129937895 LOC129937896 LOC129937897 LOC129937898 LOC129937899 LOC129937900 LOC129937901 LOC129937902 LOC129937903 LOC129937904 LOC129937905 LOC129937906 LOC129937907 LOC129937908 LOC129937909 LOC129937910 LOC129937911 LOC132088874 LOC132088875 LOC132088876 LOC132088877 LOC132090700 LOC132090701 LOC132090702 LOC132090703 LOC129938183 LOC129938184 LOC129938185 LOC129938186 LOC129938187 LOC129938188 LOC129938189 LOC129938190 LOC129938191 LOC129938192 LOC129938193 LOC129938194 LOC129938195 LOC129938196 LOC129938197 LOC129938198 LOC129938199 LOC129938200 LOC129938201 LOC129938202 LOC129938203 LOC129938204 LOC129938205 LOC129938206 LOC129938207 LOC129938208 LOC129938209 LOC129938210 LOC129938211 LOC129938212 LOC129938213 LOC129938214 LOC129938215 LOC129938216 LOC129938217 LOC129938218 LOC129938219 LOC129938220 LOC129938221 LOC129938222 LOC129938223 LOC129938276 LOC129938277 LOC129938278 LOC129938279 LOC129938280 LOC129938281 LOC129938282 LOC129938283 LOC129938284 LOC129938285 LOC129938286 LOC129938287 LOC129938288 LOC129938289 LOC129938290 LOC129938291 LOC129938292 LOC129938293 LOC129938294 LOC129938295 LOC129938296 LOC129938297 LOC129938298 LOC129938299 LOC129938300 LOC129938301 LOC129938302 LOC129938303 LOC129938304 LOC129938305 LOC129938306 LOC129938307 LOC129938308 LOC129938309 LOC129938310 LOC129938311 LOC129938312 LOC129938313 LOC129938314 LOC129938315 LOC129938316 LOC129938317 LOC129938318 LOC129938319 LOC129938320 LOC129938321 LOC129938322 LOC129938323 LOC129938324 LOC129938325 LOC129938326 LOC129938327 LOC132205956 LOC132205957 LOC129938171 LOC129938224 LOC129938225 LOC129938226 LOC129938227 LOC129938228 LOC129938229 LOC129938230 LOC129938231 LOC129938232 LOC129938233 LOC129938234 LOC129938235 LOC129938236 LOC129938237 LOC129938238 LOC129938239 LOC129938240 LOC129938241 LOC129938242 LOC129938243 LOC129938244 LOC129938245 LOC129938246 LOC129938247 LOC129938248 LOC129938249 LOC129938250 LOC129938251 LOC129938252 LOC129938253 LOC129938254 LOC129938255 LOC129938256 LOC129938257 LOC129938258 LOC129938259 LOC129938260 LOC129938261 LOC129938262 LOC129938263 LOC129938264 LOC129938265 LOC129938266 LOC129938267 LOC129938268 LOC129938269 LOC129938270 LOC129938271 LOC129938272 LOC129938273 LOC129938274 LOC129938275 LOC129938328 LOC129938329 LOC129938330 LOC132088878 LOC132088879 LOC132088881 LOC132088883 LOC132088884 LOC132088885 LOC132088886 LOC132088887 LOC132088888 LOC132088889 LOC132088890 LOC132088891 LOC132088892 LOC132088893 LOC132088894 LOC132088895 LOC132088896 LOC132088897 LOC132088898 LOC132088899 LOC132088900 LOC132088901 LOC132088902 LOC132088903 LOC132088904 LOC132088905 LOC132088906 LOC132088907 LOC132088908 LOC132088909 LOC132088910 LOC132088911 LOC132088912 LOC132088913 LOC132088914 LOC132088915 LOC132088916 LOC132088917
- Associated Variants
-
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 AND See cases
- ClinVar Allele ID
- 72578
- 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/RCV000051725
- Observed Origin Sample
- not provided
Drugs