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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking KCNQ1 and Jervell-Lange Nielsen syndrome in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Jervell-Lange Nielsen syndrome  (DOID:2842)
  • 0 papers in RGD have been used to annotate KCNQ1


    • An association has been curated linking KCNQ1 and Jervell-Lange Nielsen syndrome in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Jervell-Lange Nielsen syndrome  (DOID:2842)
  • 0 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome
  • Original References(s): PMID:29379719 PMID:29449639 PMID:29532034 PMID:29544605 PMID:29598884 PMID:29654130 PMID:29661707 PMID:29677589 PMID:29740400 PMID:29876285 PMID:29922582 PMID:30122538 PMID:30302399 PMID:30311386 PMID:30369311 PMID:30406014 PMID:30530868 PMID:30571187 PMID:30591322 PMID:30615648 PMID:30755392 PMID:30847666 PMID:30935642 PMID:30974404 PMID:31043699 PMID:31114860 PMID:31226583 PMID:31427586 PMID:31447099 PMID:31521807 PMID:31589614 PMID:31638414 PMID:31696929 PMID:31737537 PMID:31994352 PMID:32048431 PMID:32238909 PMID:32268277 PMID:32383558 PMID:32686758 PMID:32695137 PMID:32893267 PMID:32917565 PMID:32936022 PMID:33087929 PMID:33181513 PMID:33600800 PMID:33664273 PMID:33693037 PMID:33777698 PMID:34135346 PMID:34333030 PMID:34398675 PMID:34426522 PMID:34428338 PMID:34505893 PMID:34697415 PMID:35442947 PMID:36806574 PMID:8487283 PMID:9020846 PMID:9024139 PMID:9164812 PMID:9312006 PMID:9323054 PMID:9328483 PMID:9386136 PMID:9482580 PMID:9536098 PMID:9641694 PMID:9781056 PMID:9799083 PMID:9927399


    • An association has been curated linking KCNQ1 and Jervell-Lange Nielsen syndrome in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Jervell-Lange Nielsen syndrome  (DOID:2842)
  • 0 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, congenital, and functional heart disease | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome
  • Original References(s): PMID:28492532 PMID:28518168 PMID:28532774 PMID:28588847 PMID:28595573 PMID:28600177 PMID:28606196 PMID:28619993 PMID:28704380 PMID:28720088 PMID:28944242 PMID:28988457 PMID:29033053 PMID:29037160 PMID:29097701 PMID:29197658 PMID:29247119 PMID:29255176 PMID:29372044 PMID:29379719 PMID:29449639 PMID:29497013 PMID:29532034 PMID:29544605 PMID:29598884 PMID:29654130 PMID:29661707 PMID:29677589 PMID:29740400 PMID:29790872 PMID:29876285 PMID:29922582 PMID:30122538 PMID:30311386 PMID:30369311 PMID:30406014 PMID:30530868 PMID:30571187 PMID:30591322 PMID:30615648 PMID:30847666 PMID:30935642 PMID:30974404 PMID:31043699 PMID:31114860 PMID:31226583 PMID:31246743 PMID:31427586 PMID:31447099 PMID:31520628 PMID:31521807 PMID:31565860 PMID:31589614 PMID:31638414 PMID:31696929 PMID:31737537 PMID:31994352 PMID:32048431 PMID:32238909 PMID:32268277 PMID:32383558 PMID:32421437 PMID:32553227 PMID:32686758 PMID:32695137 PMID:32830254 PMID:32893267 PMID:32917565 PMID:32936022 PMID:33087929 PMID:33181513 PMID:33504163 PMID:33600800 PMID:33664273 PMID:33693037 PMID:33777698 PMID:34135346 PMID:34165182 PMID:34319147 PMID:34333030 PMID:34398675 PMID:34404389 PMID:34426522 PMID:34428338 PMID:34495297 PMID:34505893 PMID:34697415 PMID:34798354 PMID:34860437 PMID:34930020 PMID:35352813 PMID:35442947 PMID:35703482 PMID:36102233 PMID:36310718 PMID:36806574 PMID:36898499 PMID:37445499 PMID:37449562 PMID:37457655 PMID:37589201 PMID:8487283 PMID:9020846 PMID:9024139 PMID:9164812 PMID:9312006 PMID:9323054 PMID:9328483 PMID:9386136 PMID:9482580 PMID:9536098 PMID:9641694 PMID:9693036 PMID:9781056 PMID:9799083 PMID:9927399


    • An association has been curated linking KCNQ1 and Jervell-Lange Nielsen syndrome in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Jervell-Lange Nielsen syndrome  (DOID:2842)
  • 0 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, congenital, and functional heart disease | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome
  • Original References(s): PMID:10024302 PMID:10077519 PMID:10090529 PMID:10090886 PMID:10220146 PMID:10367071 PMID:10409658 PMID:10482963 PMID:10483966 PMID:10560595 PMID:10704188 PMID:10728423 PMID:10737999 PMID:10807545 PMID:10973849 PMID:11087258 PMID:11140949 PMID:11162126 PMID:11216980 PMID:11530100 PMID:11668638 PMID:11668641 PMID:11761407 PMID:11799244 PMID:11997281 PMID:12051962 PMID:12175777 PMID:12205113 PMID:12402336 PMID:12477631 PMID:12522251 PMID:12566525 PMID:12653681 PMID:12690509 PMID:12702160 PMID:12736279 PMID:12877697 PMID:1346223 PMID:14510661 PMID:14661676 PMID:14661677 PMID:1467812 PMID:14678125 PMID:14731347 PMID:14760488 PMID:14998624 PMID:15028050 PMID:15051636 PMID:15140888 PMID:15176425 PMID:15192825 PMID:15214551 PMID:15234419 PMID:15242738 PMID:15466642 PMID:15469540 PMID:15500450 PMID:15528464 PMID:15547041 PMID:15746441 PMID:15781747 PMID:15840476 PMID:15851171 PMID:15913580 PMID:15935335 PMID:16038262 PMID:16039274 PMID:16132053 PMID:16155735 PMID:16199547 PMID:16414944 PMID:16487223 PMID:16556865 PMID:16556866 PMID:16818214 PMID:16922724 PMID:16937190 PMID:17016049 PMID:17161064 PMID:17192539 PMID:17210839 PMID:17222736 PMID:17329207 PMID:17329209 PMID:17467628 PMID:17470695 PMID:17576681 PMID:17597962 PMID:17905336 PMID:17999538 PMID:18004376 PMID:18165683 PMID:18174212 PMID:18222468 PMID:18239739 PMID:18426444 PMID:18452873 PMID:18611041 PMID:18752142 PMID:19124472 PMID:19160088 PMID:19490272 PMID:19590188 PMID:19632626 PMID:19716085 PMID:19808498 PMID:19815527 PMID:19825999 PMID:19841298 PMID:1984130 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19934648 PMID:19959132 PMID:20044973 PMID:20167303 PMID:20196769 PMID:20226272 PMID:20348026 PMID:20421371 PMID:20486126 PMID:20487114 PMID:20541041 PMID:20659946 PMID:20662986 PMID:20850564 PMID:20851114 PMID:21063070 PMID:21118729 PMID:21131640 PMID:21185501 PMID:21215473 PMID:21244686 PMID:21350584 PMID:21380488 PMID:21451124 PMID:21499742 PMID:21511995 PMID:21576493 PMID:21778721 PMID:21779290 PMID:21956039 PMID:22095730 PMID:22199116 PMID:22293141 PMID:22309168 PMID:22378279 PMID:22456477 PMID:22509038 PMID:22539601 PMID:22581653 PMID:22629021 PMID:22677073 PMID:22727609 PMID:22739119 PMID:22885918 PMID:22927196 PMID:22947121 PMID:2294929 PMID:22949429 PMID:22956155 PMID:23098067 PMID:23123674 PMID:23124029 PMID:23130128 PMID:23139254 PMID:23158531 PMID:23174487 PMID:23251633 PMID:23304551 PMID:23350853 PMID:23392653 PMID:23396983 PMID:23400408 PMID:234515 PMID:23465283 PMID:23571586 PMID:23631430 PMID:23788249 PMID:23851063 PMID:23861362 PMID:23861489 PMID:23890619 PMID:23935525 PMID:23995044 PMID:24033266 PMID:24055113 PMID:24144883 PMID:24184248 PMID:24190995 PMID:24217263 PMID:24218437 PMID:24223155 PMID:24284363 PMID:24357532 PMID:24363352 PMID:24372464 PMID:24388587 PMID:24440382 PMID:24552659 PMID:24606995 PMID:24631775 PMID:24666684 PMID:24667783 PMID:24681627 PMID:24689698 PMID:24762593 PMID:24861447 PMID:24912595 PMID:24920132 PMID:24947509 PMID:25037568 PMID:25119684 PMID:25294783 PMID:25344363 PMID:25351510 PMID:25447171 PMID:25453094 PMID:25467552 PMID:25471708 PMID:25525159 PMID:25559286 PMID:25608792 PMID:25637381 PMID:25639344 PMID:25649125 PMID:25705178 PMID:25712016 PMID:25741868 PMID:25741886 PMID:25741888 PMID:25786344 PMID:25804018 PMID:25854863 PMID:25916402 PMID:25929701 PMID:25956966 PMID:25985138 PMID:25991456 PMID:26019114 PMID:26022593 PMID:26063740 PMID:26077850 PMID:26118460 PMID:26159999 PMID:26187847 PMID:26228265 PMID:26318259 PMID:26344792 PMID:26385840 PMID:26412604 PMID:26467025 PMID:26496715 PMID:26498160 PMID:2654361 PMID:26546361 PMID:26669661 PMID:26704558 PMID:26743238 PMID:26937405 PMID:27000522 PMID:27041096 PMID:27041150 PMID:27159321 PMID:27231019 PMID:27251404 PMID:27379800 PMID:27451284 PMID:27470144 PMID:27650965 PMID:27690226 PMID:27707468 PMID:27761162 PMID:27816319 PMID:27831900 PMID:27871843 PMID:27884173 PMID:27920829 PMID:28212739 PMID:28302345 PMID:28360401 PMID:28364778 PMID:28438721 PMID:28449774 PMID:28472724


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