Annotation Detail

Information
Associated Genes
AQP4 ATP5F1A BCL2 CDH2 CDH7 CYB5A DCC DSC1 DSC2 DSC3 DSG1 DSG2 DSG3 DTNA FECH KDSR GALNT1 GATA6 GRP LAMA3 LMAN1 SMAD2 SMAD4 SMAD7 MBD1 MC4R ME2 MEP1B MYO5B NARS1 NPC1 SERPINB2 ATP8B1 SERPINB5 SERPINB8 SERPINB10 SERPINB13 PIK3C3 PMAIP1 MAPK4 RAB27B RBBP8 RIT2 ROCK1 RPL17 SERPINB3 SERPINB4 SLC14A1 SNRPD1 SS18 SYT4 TAF4B TCF4 TTR ZNF24 SLC14A2 SERPINB7 NOL4 RIOK3 TNFRSF11A MBD2 PSTPIP2 PIAS2 SOCS6 B4GALT6 TXNL1 LIPG ONECUT2 VPS4B CTIF ACAA2 CD226 MALT1 MAPRE2 POLI TRAPPC8 PHLPP1 NEDD4L WDR7 PIGN SLC39A6 RTTN ZNF521 TPGS2 SETBP1 CABYR SNORD58B SNORD58A CDH20 CDH19 TIMM21 ST8SIA5 RMC1 RAX CXXC1 ST8SIA3 IER3IP1 ELOA2 MEX3C RNF138 TMX3 DYM ZCCHC2 RNF125 MOCOS RPRD1A ZNF532 ELP2 IMPACT ELAC1 ZNF407 CNDP2 CELF4 MIB1 KIAA1328 KLHL14 RELCH EPG5 HRH4 CTAGE1 GAREM1 CCDC102B GREB1L FHOD3 CCDC68 ASXL3 NETO1 KATNAL2 CHST9 C18orf21 MRO HDHD2 ZNF397 ZBTB7C-AS2 CNDP1 TMEM241 SERPINB12 SERPINB11 SEC11C CABLES1 DSEL ESCO1 OSBPL1A HAUS1 ALPK2 LOXHD1 INO80C TTC39C DIPK1C PSMA8 STARD6 ARK2N CCBE1 CBLN2 SLC25A52 DSG4 AQP4-AS1 ANKRD29 C18orf54 ABHD3 FBXO15 ZBTB7C SKA1 CFAP53 GTSCR1 DOK6 RNF152 LINC00305 ZNF396 KCTD1 DYNAP BOD1L2 LINC00907 SIGLEC15 HMSD LINC01924 CPLX4 CCDC178 LINC01538 LINC02864 ZNF407-AS1 MIR1-2 MIR122 MIR133A1 MIR187 ARK2C C18orf32 KC6 LINC03069 DSEL-AS1 C18orf63 MIR924HG SKOR2 SCARNA17 SNORA37 PCAT18 LINC01915 ZSCAN30 SNORD58C MIR924 GATA6-AS1 DYM-AS1 LINC01415 TRK-CTT6-1 LINC01630 MIR302F MIR320C1 MIR320C2 MIR1539 MIR4319 MIR4318 MIR4320 MIR3929 LINC01539 ATP8B1-AS1 LINC01541 NETO1-DT LINC02582 LINC01543 RPL17-C18orf32 MIR4741 MIR4528 MIR3975 MIR4527 MIR4529 MIR3591 MIR4743 MIR4744 DSG2-AS1 MIR5583-2 MIR5011 MIR5583-1 MIR548AV LINC-ROR LINC01544 LINC01910 LINC01929 LINC01416 MALT1-AS1 LINC01903 LINC01909 GREB1L-DT LOC101927521 LOC101927571 LINC01922 DSCAS DSG1-AS1 COSMOC LINC01477 LINC01478 SETBP1-DT SLC14A2-AS1 LINC02837 LINC01917 MIR8057 MIR133A1HG LINC01900 TTC39C-AS1 LINC01919 LINC01905 LINC03110 LIVAR LINC01899 SNHG22 LOC105372028 LINC01894 LOC105372035 LINC01908 LOC105372038 LOC105372041 LOC105372066 LOC105372068 LOC105372069 LOC105372071 LINC01902 LINC01901 TCF4-AS1 LINC02565 LOC105372143 LOC105372145 LINC01926 LOC105372155 LOC105372173 LINC01912 LOC105372179 LOC105372187 LINC01601 SNORA108 SNORA111 LOC107457587 LOC107457597 WDR7-OT1 LINC02958 LOC107992389 LOC108281158 LOC109609705 LOC110120864 LOC110120865 LOC110120866 LOC110120867 LOC110120868 LOC110120885 LOC110120900 LOC110120920 LOC110120940 LOC110120953 LOC110121313 LOC110121315 LOC110121328 LOC110121329 LOC110121352 LOC110121353 LOC110121357 LOC110121361 LOC110121367 LOC110121371 LOC110121390 LOC110121394 LOC110121398 LOC110121416 LOC110121417 LOC110121420 LOC110121421 LOC110121423 LOC110121438 LOC110121493 MIR4527HG LOC111365166 LOC111365201 LOC111501775 LOC111718495 MIR122HG LOC112538444 LOC112540014 LOC112540015 LOC112540016 LOC112540017 LOC112543421 LOC112543422 LOC112543424 LOC112543425 LOC112543426 LOC112543427 LOC112543428 LOC112543429 LOC112543430 LOC112543432 LOC112543433 LOC113939964 LOC113939965 LOC114803473 LOC114827854 LOC114827855 LOC116276490 LOC116276491 LOC116276492 KDSR-DT LOC121627824 LOC121627825 LOC121627826 LOC121627827 LOC121627828 LOC121627829 LOC121627830 LOC121627831 LOC121627832 LOC121627833 LOC121627834 LOC121627835 LOC121627836 LOC121627838 LOC121627839 LOC121852959 LOC121852960 LOC121852961 LOC121852962 LOC121852963 LOC121852964 LOC121852965 LOC121852966 LOC121852967 LOC121852968 LOC121852969 ZNF24TR LINC01897 LOC125368554 LOC125368555 LOC125368556 LOC125368557 LOC125368558 LOC125368559 LOC125368560 LOC125371406 LOC125371407 LOC125371408 LOC125371409 LOC125371410 LOC125371411 LOC125371412 LOC125371413 LOC125371414 LOC125371416 LOC125371417 LOC125371418 LOC125371419 LOC125371420 LOC125371421 LOC125371424 LOC125371425 LOC125371426 LOC125371427 LOC125371428 LOC125371429 LOC125371430 LOC125371431 LOC125371432 LOC125371433 LOC125371434 LOC125371435 LOC125371436 LOC125371437 LOC125371438 LOC126862702 LOC126862703 LOC126862704 LOC126862705 LOC126862706 LOC126862707 LOC126862708 LOC126862709 LOC126862710 LOC126862711 LOC126862712 LOC126862713 LOC126862714 LOC126862715 LOC126862716 LOC126862717 LOC126862718 LOC126862719 LOC126862720 LOC126862721 LOC126862722 LOC126862723 LOC126862724 LOC126862725 LOC126862726 LOC126862727 LOC126862728 LOC126862729 LOC126862730 LOC126862731 LOC126862732 LOC126862733 LOC126862734 LOC126862735 LOC126862736 LOC126862737 LOC126862738 LOC126862739 LOC126862740 LOC126862741 LOC126862742 LOC126862743 LOC126862744 LOC126862745 LOC126862746 LOC126862747 LOC126862748 LOC126862749 LOC126862750 LOC126862751 LOC126862752 LOC126862753 LOC126862754 LOC126862755 LOC126862756 LOC126862757 LOC126862758 LOC126862759 LOC126862760 LOC126862761 LOC126862762 LOC126862763 LOC126862764 LOC126862765 LOC126862766 LOC126862767 LOC126862768 LOC126862769 LOC126862770 LOC126862771 LOC126862772 LOC126862773 LOC126862774 LOC126862775 LOC126862776 LOC126862777 LOC126862778 LOC126862779 LOC126862780 LOC126862781 LOC126862782 LOC126862783 LOC126862784 LOC126862785 LOC126862786 LOC126862787 LOC126862788 LOC126862789 LOC126862790 LOC126862791 LOC126862792 LOC126862793 LOC126862794 LOC126862795 LOC126862796 LOC126862797 LOC126862798 LOC129390959 LOC129390960 LOC129390961 LOC129390962 LOC129390963 LOC129390964 LOC129390965 LOC129390966 LOC129390967 LOC129390968 LOC129390969 LOC129390970 LOC129390971 LOC129390972 LOC129390973 LOC129390974 LOC129390975 LOC129390976 LOC129390977 LOC129390978 LOC129390979 LOC129390980 LOC129390981 LOC129390982 LOC129390983 LOC129390984 LOC129390985 LOC129390986 LOC129390987 LOC129390988 LOC129390989 LOC129390990 LOC129390991 LOC129390992 LOC129390993 LOC129390994 LOC129390995 LOC129390996 LOC129390997 LOC129390998 LOC129390999 LOC129391000 LOC129391001 LOC129391002 LOC129391003 LOC129391004 LOC129391005 LOC130062243 LOC130062244 LOC130062245 LOC130062246 LOC130062247 LOC130062248 LOC130062249 LOC130062250 LOC130062251 LOC130062252 LOC130062253 LOC130062254 LOC130062255 LOC130062256 LOC130062257 LOC130062258 LOC130062259 LOC130062260 LOC130062261 LOC130062262 LOC130062263 LOC130062264 LOC130062265 LOC130062266 LOC130062267 LOC130062268 LOC130062269 LOC130062270 LOC130062271 LOC130062272 LOC130062273 LOC130062274 LOC130062275 LOC130062276 LOC130062277 LOC130062278 LOC130062279 LOC130062280 LOC130062281 LOC130062282 LOC130062283 LOC130062284 LOC130062285 LOC130062286 LOC130062287 LOC130062288 LOC130062289 LOC130062290 LOC130062291 LOC130062292 LOC130062293 LOC130062294 LOC130062295 LOC130062296 LOC130062297 LOC130062298 LOC130062299 LOC130062300 LOC130062301 LOC130062302 LOC130062303 LOC130062304 LOC130062305 LOC130062306 LOC130062307 LOC130062308 LOC130062309 LOC130062310 LOC130062311 LOC130062312 LOC130062313 LOC130062314 LOC130062315 LOC130062316 LOC130062317 LOC130062318 LOC130062319 LOC130062320 LOC130062321 LOC130062322 LOC130062323 LOC130062324 LOC130062325 LOC130062326 LOC130062327 LOC130062328 LOC130062329 LOC130062330 LOC130062331 LOC130062332 LOC130062333 LOC130062334 LOC130062335 LOC130062336 LOC130062337 LOC130062338 LOC130062339 LOC130062340 LOC130062341 LOC130062342 LOC130062343 LOC130062344 LOC130062345 LOC130062346 LOC130062347 LOC130062348 LOC130062349 LOC130062350 LOC130062351 LOC130062352 LOC130062353 LOC130062354 LOC130062355 LOC130062356 LOC130062357 LOC130062358 LOC130062359 LOC130062360 LOC130062361 LOC130062362 LOC130062363 LOC130062364 LOC130062365 LOC130062366 LOC130062367 LOC130062368 LOC130062369 LOC130062370 LOC130062371 LOC130062372 LOC130062373 LOC130062374 LOC130062375 LOC130062376 LOC130062377 LOC130062378 LOC130062379 LOC130062380 LOC130062381 LOC130062382 LOC130062383 LOC130062384 LOC130062385 LOC130062386 LOC130062387 LOC130062388 LOC130062389 LOC130062390 LOC130062391 LOC130062392 LOC130062393 LOC130062394 LOC130062395 LOC130062396 LOC130062397 LOC130062398 LOC130062399 LOC130062400 LOC130062401 LOC130062402 LOC130062403 LOC130062404 LOC130062405 LOC130062406 LOC130062407 LOC130062408 LOC130062409 LOC130062410 LOC130062411 LOC130062412 LOC130062413 LOC130062414 LOC130062415 LOC130062416 LOC130062417 LOC130062418 LOC130062419 LOC130062420 LOC130062421 LOC130062422 LOC130062423 LOC130062424 LOC130062425 LOC130062426 LOC130062427 LOC130062428 LOC130062429 LOC130062430 LOC130062431 LOC130062432 LOC130062433 LOC130062434 LOC130062435 LOC130062436 LOC130062437 LOC130062438 LOC130062439 LOC130062440 LOC130062441 LOC130062442 LOC130062443 LOC130062444 LOC130062445 LOC130062446 LOC130062447 LOC130062448 LOC130062449 LOC130062450 LOC130062451 LOC130062452 LOC130062453 LOC130062454 LOC130062455 LOC130062456 LOC130062457 LOC130062458 LOC130062459 LOC130062460 LOC130062461 LOC130062462 LOC130062463 LOC130062464 LOC130062465 LOC130062466 LOC130062467 LOC130062468 LOC130062469 LOC130062470 LOC130062471 LOC130062472 LOC130062473 LOC130062474 LOC130062475 LOC130062476 LOC130062477 LOC130062478 LOC130062479 LOC130062480 LOC130062481 LOC130062482 LOC130062483 LOC130062484 LOC130062485 LOC130062486 LOC130062487 LOC130062488 LOC130062489 LOC130062490 LOC130062491 LOC130062492 LOC130062493 LOC130062494 LOC130062495 LOC130062496 LOC130062497 LOC130062498 LOC130062499 LOC130062500 LOC130062501 LOC130062502 LOC130062503 LOC130062504 LOC130062505 LOC130062506 LOC130062507 LOC130062508 LOC130062509 LOC130062510 LOC130062511 LOC130062512 LOC130062513 LOC130062514 LOC130062515 LOC130062516 LOC130062517 LOC130062518 LOC130062519 LOC130062520 LOC130062521 LOC130062522 LOC130062523 LOC130062524 LOC130062525 LOC130062526 LOC130062527 LOC130062528 LOC130062529 LOC130062530 LOC130062531 LOC130062532 LOC130062533 LOC130062534 LOC130062535 LOC130062536 LOC130062537 LOC130062538 LOC130062539 LOC130062540 LOC130062541 LOC130062542 LOC130062543 LOC130062544 LOC130062545 LOC130062546 LOC130062547 LOC130062548 LOC130062549 LOC130062550 LOC130062551 LOC130062552 LOC130062553 LOC130062554 LOC130062555 LOC130062556 LOC130062557 LOC130062558 LOC130062559 LOC130062560 LOC130062561 LOC130062562 LOC130062563 LOC130062564 LOC130062565 LOC130062566 LOC130062567 LOC130062568 LOC130062569 LOC130062570 LOC130062571 LOC130062572 LOC130062573 LOC130062574 LOC130062575 LOC130062576 LOC130062577 LOC130062578 LOC130062579 LOC130062580 LOC130062581 LOC130062582 LOC130062583 LOC130062584 LOC130062585 LOC130062586 LOC130062587 LOC130062588 LOC130062589 LOC130062590 LOC130062591 LOC130062592 LOC130062593 LOC130062594 LOC130062595 LOC130062596 LOC130062597 LOC130062598 LOC130062599 LOC130062600 LOC130062601 LOC130062602 LOC130062603 LOC130062604 LOC130062605 LOC130062606 LOC130062607 LOC130062608 LOC130062609 LOC130062610 LOC130062611 LOC130062612 LOC130062613 LOC130062614 LOC130062615 LOC130062616 LOC130062617 LOC130062618 LOC130062619 LOC130062620 LOC130062621 LOC130062622 LOC130062623 LOC130062624 LOC130062625 LOC130062626 LOC130062627 LOC130062628 LOC130062629 LOC130062630 LOC130062631 LOC130062632 LOC130062633 LOC130062634 LOC130062635 LOC130062636 LOC130062637 LOC130062638 LOC130062639 LOC130062640 LOC130062641 LOC130062642 LOC130062643 LOC130062644 LOC130062645 LOC130062646 LOC130062647 LOC130062648 LOC130062649 LOC130062650 LOC130062651 LOC130062652 LOC130062653 LOC130062654 LOC130062655 LOC130062656 LOC130062657 LOC130062658 LOC130062659 LOC130062660 LOC130062661 LOC130062662 LOC130062663 LOC130062664 LOC130062665 LOC130062666 LOC130062667 LOC130062668 LOC130062669 LOC130062670 LOC130062671 LOC130062672 LOC130062673 LOC130062674 LOC130062675 LOC130062676 LOC130062677 LOC130062678 LOC130062679 LOC130062680 LOC130062681 LOC130062682 LOC130062683 LOC130062684 LOC130062685 LOC130062686 LOC130062687 LOC130062688 LOC130062689 LOC130062690 LOC130062691 LOC130062692 LOC130062693 LOC130062694 LOC130062695 LOC130062696 LOC130062697 LOC130062698 LOC130062699 LOC130062700 LOC130062701 LOC130062702 LOC130062703 LOC130062704 LOC130062705 LOC130062706 LOC130062707 LOC130062708 LOC130062709 LOC130062710 LOC130062711 LOC130062712 LOC130062713 LOC130062714 LOC130062715 LOC130062716 LOC130062717 LOC130062718 LOC130062719 LOC130062720 LOC130062721 LOC130062722 LINC03111 LINC02879 LOC132090488 LOC132090490 LOC132090491 LOC132090492 LOC132090493 LOC132090494 LOC132090495 LOC132090496 LOC132090497 LOC132090498 LOC132090499 LOC132090500 LOC132090501 LOC132090502 LOC132090503 LOC132090504 LOC132090505 LOC132090506 LOC132090507 LOC132090508 LOC132090509 LOC132090510 LOC132090511 LOC132090512 LOC132090513 LOC132090514 LOC132090515 LOC132090516 LOC132090517 LOC132090518 LOC132090519 LOC132090520 LOC132090521 LOC132090522 LOC132090523 LOC132090524 LOC132090525 LOC132090526 LOC132090527 LOC132090899 LOC132090900 LOC132211113 LOC132211114
Associated Variants
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3
Source Database
ClinVar
Description
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 AND See cases
ClinVar Allele ID
164744
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-09-21
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000143057
Observed Origin Sample
not provided
Drugs