Annotation Detail

Information
Associated Genes
ADM AP2A2 AMPD3 APBB1 RHOG BMAL1 ART1 ASCL2 CALCA CALCB CARS1 CCKBR CD81 CD151 CDKN1C TPP1 CNGA4 COPB1 CTSD DRD4 DUSP8 EIF4G2 GTF2H1 HBB HBD HBE1 HBG1 HBG2 HPX HRAS IGF2 ILK INS IRF7 KCNC1 KCNJ11 KCNQ1 LDHA LDHC LMO1 LSP1 MUC2 MUC5AC MUC6 MYOD1 NAP1L4 NUCB2 NUP98 SLC22A18 SLC22A18AS PDE3B PIK3C2A POLR2L PSMA1 PTH RNH1 MRPL23 RPL27A RPLP2 RPS13 RRM1 SAA1 SAA2 SAA4 SCT SMPD1 TRIM21 DENND2B STIM1 ABCC8 TAF10 TALDO1 TEAD1 TH TSPAN4 TNNI2 TNNT3 TPH1 TSG101 PHLDA2 TUB WEE1 ZNF143 ZNF195 ZNF214 ZNF215 RASSF7 PPFIBP2 OR6A2 DCHS1 EIF3F BRSK2 MICAL2 CTR9 TRIM66 TSPAN32 TSSC4 USH1C IRAG1 TRIM22 SPON1 DEAF1 IPO7 TRIM3 LYVE1 C11orf58 KCNQ1OT1 HPS5 RRAS2 SWAP70 DENND5A RRP8 OR52A1 ARFIP2 SERGEF OR10A3 TIMM10B SNORD14A DKK3 RBMXL2 PGAP2 C11orf21 TRPM5 UBQLN3 RNF141 IGF2-AS CEND1 CYB5R2 TRIM34 CDHR5 TOLLIP USP47 TRIM68 UEVLD PIDD1 KCNQ1DN SOX6 PARVA MMP26 AKIP1 C11orf16 TMEM9B NRIP3 ASCL3 CHRNA10 PNPLA2 PHRF1 SCUBE2 ZBED5 MRPL17 EPS8L2 STK33 CHID1 OR52E1 OR51G1 OR51B4 OR51B2 OR51J1 OR52N1 RIC3 SLC25A22 OR52P1 OR51G2 OR51E2 PTDSS2 MOB2 SBF2 FHIP1B FAR1 BTBD10 PTPN5 TRIM5 SNORD14B SYT8 CAVIN3 SAAL1 OSBPL5 LRRC56 MRGPRE ART5 MRGPRX3 MRGPRX4 TRIM6 OR52E2 OR52J3 OR51L1 OR51A7 OR51S1 OR51F2 OR52R1 OR52M1 OR52K2 OR5P2 OR5P3 CYP2R1 OR2D3 OR2D2 OR52W1 OR56A4 OR56A1 SYT9 OR52B4 C11orf40 OR52I2 OR51E1 SSU72L3 UBQLNL LOC143666 PLEKHA7 SPTY2D1 TMEM86A OR10A5 OR2AG1 DNHD1 LDHAL6A C11orf42 GATD1-DT SSU72L5 OR56B4 TOLLIP-DT OR52B2 LMNTD2 OR51F1 OR51B5 SBF2-AS1 CSNK2A3 OR51V1 H19 CRACR2B TMEM80 IGSF22 OR10A4 OLFML1 LOC283299 MRGPRG-AS1 NLRP10 NLRP14 KRTAP5-AS1 KCNQ1-AS1 OR52L1 OR2AG2 OR52B6 OTOG OR10A2 OVCH2 GATD1 GALNT18 NCR3LG1 MRGPRG KRTAP5-1 KRTAP5-3 KRTAP5-4 FAM99A OR56B1 INSC SSU72L2 SSU72L1 OR52K1 OR52I1 OR51D1 OR52A5 OR51B6 OR51M1 OR51Q1 OR51I1 OR51I2 OR52D1 OR52H1 OR52N4 OR56B2P OR52N5 OR52N2 OR52E6 OR52E8 OR52E4 OR52E5 OR56A3 OR56A5 OR10A6 OR51C1P OR51T1 OR51A4 OR51A2 IFITM10 MIR210 KRTAP5-5 KRTAP5-2 KRTAP5-6 TMEM41B LINC02709 SSU72L4 TMEM9B-AS1 MIR483 SNORA3A SNORA52 LOC644656 RASSF10 SNORA23 SNORA3B SNORA54 SNORD97 LMNTD2-AS1 INS-IGF2 MUC5B ZBED5-AS1 MIR675 IRAG1-AS1 CAND1.11 FAM99B MRPL23-AS1 TRL-CAA5-1 MIR302E MIR3159 MIR4298 MIR4299 MTRNR2L8 LINC02708 LINC02749 MIR210HG SYT9-AS1 LINC00958 MISFA SAA2-SAA4 MIR4686 MIR4485 MIR4687 MIR5691 CARS1-AS1 PANO1 LINC02688 LINC01150 CD81-AS1 LOC101927708 TUB-AS1 RIC3-DT LOC101928008 LOC101928053 LINC02683 MIR6073 MIR8070 MIR7847 MIR6744 MIR6124 LINC02729 PRR33 DENND2B-AS1 BGLT3 CASC23 LINC01219 HBB-3'HS1 H19-ICR LOC105274310 LOC105369149 LOC105376526 STIM1-AS1 NRIP3-DT ADM-DT LINC02752 LINC02547 RASSF10-DT LINC02545 LINC02548 LINC02751 LINC02682 HBB-HS-111 LOC106099062 LOC106099063 LOC106099064 LOC106099065 SNORD131 LOC106736470 LOC106783508 LOC106799843 LOC106865369 LOC107133510 LOC107988023 LOC108254681 LOC108281125 HBB-LCR SNORD147 LOC109623489 A-GAMMA3'E LOC109951029 LOC110006319 LOC110008579 LOC110011217 LOC110013311 LOC110120848 LOC110120922 LOC110120926 LOC110120947 LOC110121340 LOC110121343 LOC110121378 LOC110121434 LOC110121453 LOC110121471 LOC110121483 HS-E1 HBB-HS-107 LOC111413037 LOC111718490 LOC111982890 LOC112042781 LOC112042782 LOC112067712 LOC112067713 LOC112067714 LOC112067715 LOC112067716 LOC112067719 LOC112067720 LOC112081391 LOC112081400 LOC112081404 LOC112081405 LOC112136080 LOC112136081 LOC112136092 LOC112136094 MUC5B-AS1 LOC113939920 LOC113939924 LOC113939927 LOC113939928 LOC114827852 LOC116216127 LOC116216128 LOC116216129 IGSF22-AS1 LOC121392887 LOC121392888 LOC121392889 LOC121392890 LOC121392891 LOC121392892 LOC121832782 LOC121832783 LOC121832784 LOC121832785 LOC121832786 LOC121832787 LOC121832788 LOC124418411 LOC124418412 LOC124418413 LOC124418414 LOC124418415 LOC124418416 LOC124418418 LOC124418419 LOC124418420 LOC124418421 LOC124418422 LOC124418423 LOC124418426 LOC124421482 LOC124421483 LOC124421484 LOC124421485 LOC124421486 LOC124421487 LOC124421488 LOC124421489 LOC124421490 LOC124421491 LOC124421492 LOC124421493 LOC124421494 LOC124421495 LOC124421496 LOC124421497 LOC124421498 LOC124421499 LOC124421500 LOC124421501 LOC124421502 LOC124421503 LOC124902806 LINC02989 PRADX LOC126861109 LOC126861110 LOC126861111 LOC126861112 LOC126861113 LOC126861114 LOC126861115 LOC126861116 LOC126861117 LOC126861118 LOC126861119 LOC126861120 LOC126861121 LOC126861122 LOC126861123 LOC126861124 LOC126861125 LOC126861126 LOC126861127 LOC126861128 LOC126861129 LOC126861130 LOC126861131 LOC126861132 LOC126861133 LOC126861134 LOC126861135 LOC126861136 LOC126861137 LOC126861138 LOC126861139 LOC126861140 LOC126861141 LOC126861142 LOC126861143 LOC126861144 LOC126861145 LOC126861146 LOC126861147 LOC126861148 LOC126861149 LOC126861150 LOC126861151 LOC126861152 LOC126861153 LOC126861154 LOC128772342 LOC128772343 LOC128772344 LOC128772345 LOC128772346 LOC129388416 LOC129388417 LOC129390246 LOC129390247 LOC129390248 LOC129390249 LOC129390250 LOC129390251 LOC129390252 LOC129390253 LOC129390254 LOC129390255 LOC129390256 LOC129390257 LOC129390258 LOC129390259 LOC129390260 LOC129390261 LOC129390262 LOC129390263 LOC129390264 LOC129390265 LOC129390266 LOC129390267 LOC129390268 LOC129390269 LOC130005070 LOC130005071 LOC130005072 LOC130005073 LOC130005074 LOC130005075 LOC130005076 LOC130005077 LOC130005078 LOC130005079 LOC130005080 LOC130005081 LOC130005082 LOC130005083 LOC130005084 LOC130005085 LOC130005086 LOC130005087 LOC130005088 LOC130005089 LOC130005090 LOC130005091 LOC130005092 LOC130005093 LOC130005094 LOC130005095 LOC130005096 LOC130005097 LOC130005098 LOC130005099 LOC130005100 LOC130005101 LOC130005102 LOC130005103 LOC130005104 LOC130005105 LOC130005106 LOC130005107 LOC130005108 LOC130005109 LOC130005110 LOC130005111 LOC130005112 LOC130005113 LOC130005114 LOC130005115 LOC130005116 LOC130005117 LOC130005118 LOC130005119 LOC130005120 LOC130005121 LOC130005122 LOC130005123 LOC130005124 LOC130005125 LOC130005126 LOC130005127 LOC130005128 LOC130005129 LOC130005130 LOC130005131 LOC130005132 LOC130005133 LOC130005134 LOC130005135 LOC130005136 LOC130005137 LOC130005138 LOC130005139 LOC130005140 LOC130005141 LOC130005142 LOC130005143 LOC130005144 LOC130005145 LOC130005146 LOC130005147 LOC130005148 LOC130005149 LOC130005150 LOC130005151 LOC130005152 LOC130005153 LOC130005154 LOC130005155 LOC130005156 LOC130005157 LOC130005158 LOC130005159 LOC130005160 LOC130005161 LOC130005162 LOC130005163 LOC130005164 LOC130005165 LOC130005166 LOC130005167 LOC130005168 LOC130005169 LOC130005170 LOC130005171 LOC130005172 LOC130005173 LOC130005174 LOC130005175 LOC130005176 LOC130005177 LOC130005178 LOC130005179 LOC130005180 LOC130005181 LOC130005182 LOC130005183 LOC130005184 LOC130005185 LOC130005186 LOC130005187 LOC130005188 LOC130005189 LOC130005190 LOC130005191 LOC130005192 LOC130005193 LOC130005194 LOC130005195 LOC130005196 LOC130005197 LOC130005198 LOC130005199 LOC130005200 LOC130005201 LOC130005202 LOC130005203 LOC130005204 LOC130005205 LOC130005206 LOC130005207 LOC130005208 LOC130005209 LOC130005210 LOC130005211 LOC130005212 LOC130005213 LOC130005214 LOC130005215 LOC130005216 LOC130005217 LOC130005218 LOC130005219 LOC130005220 LOC130005221 LOC130005222 LOC130005223 LOC130005224 LOC130005225 LOC130005226 LOC130005227 LOC130005228 LOC130005229 LOC130005230 LOC130005231 LOC130005232 LOC130005233 LOC130005234 LOC130005235 LOC130005236 LOC130005237 LOC130005238 LOC130005239 LOC130005240 LOC130005241 LOC130005242 LOC130005243 LOC130005244 LOC130005245 LOC130005246 LOC130005247 LOC130005248 LOC130005249 LOC130005250 LOC130005251 LOC130005252 LOC130005253 LOC130005254 LOC130005255 LOC130005256 LOC130005257 LOC130005258 LOC130005259 LOC130005260 LOC130005261 LOC130005262 LOC130005263 LOC130005264 LOC130005265 LOC130005266 LOC130005267 LOC130005268 LOC130005269 LOC130005270 LOC130005271 LOC130005272 LOC130005273 LOC130005274 LOC130005275 LOC130005276 LOC130005277 LOC130005278 LOC130005279 LOC130005280 LOC130005281 LOC130005282 LOC130005283 LOC130005284 LOC130005285 LOC130005286 LOC130005287 LOC130005288 LOC130005289 LOC130005290 LOC130005291 LOC130005292 LOC130005293 LOC130005294 LOC130005295 LOC130005296 LOC130005297 LOC130005298 LOC130005299 LOC130005300 LOC130005301 LOC130005302 LOC130005303 LOC130005304 LOC130005305 LOC130005306 LOC130005307 LOC130005308 LOC130005309 LOC130005310 LOC130005311 LOC130005312 LOC130005313 LOC130005314 LOC130005315 LOC130005316 LOC130005317 LOC130005318 LOC130005319 LOC130005320 LOC130005321 LOC130005322 LOC130005323 LOC130005324 LOC130005325 LOC130005326 LOC130005327 LOC130005328 LOC130005329 LOC130005330 LOC130005331 LOC130005332 LOC130005333 LOC130005334 LOC130005335 LOC130005336 LOC130005337 LOC130005338 LOC130005339 LOC130005340 LOC130005341 LOC130005342 LOC130005343 LOC130005344 LOC130005345 LOC130005346 LOC130005347 LOC130005348 LOC130005349 LOC130005350 LOC130005351 LOC130005352 LOC130005353 LOC130005354 LOC130005355 LOC130005356 LOC130005357 LOC130005358 LOC130005359 LOC130005360 LOC130005361 LOC130005362 LOC130005363 LOC130005364 LOC130005365 LOC130005366 LOC130005367 LOC130005368 LOC130005369 LOC130005370 LOC130005371 LOC130005372 LOC130005373 LOC130005374 LOC130005375 LOC130005376 LOC130005377 LOC130005378 LOC130005379 LOC130005380 LOC130005381 LOC130005382 LOC130005383 LOC130005384 LOC130005385 LOC130005386 LOC130005387 LOC130005388 LOC130005389 LOC130005390 LOC130005391 LOC130005392 LOC130005393 LOC130005394 LOC130005395 LOC130005396 LOC130005397 LOC130005398 LOC130005399 LOC130005400 LOC130005401 LOC130005402 LOC130005403 LOC130005404 LOC130005405 LOC130005406 LOC130005407 LOC130005408 LOC130005409 LOC130005410 LOC130005411 LOC130005412 LOC130005413 LOC130005414 LOC130005415 LOC130005416 LOC130005417 LOC130005418 LOC130005419 LOC132089897 LOC132089898 LOC132089899 LOC132089927 LOC132089930 LOC132089931 LOC132090831 LOC132090832 LOC132090833
Associated Variants
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3
Source Database
ClinVar
Description
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 AND See cases
ClinVar Allele ID
154266
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-04-30
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000133997
Observed Origin Sample
not provided
Drugs