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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cao H and Hegele RA, J Hum Genet. 2003;48(5):271-4. Epub 2003 Apr 3.
  • The annotation has been inferred from sequence orthology with LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cao H and Hegele RA, J Hum Genet. 2003;48(5):271-4. Epub 2003 Apr 3.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: DNA:missense mutations, silent mutation:cds:multiple


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mounkes LC, etal., Nature 2003 May 15;423(6937):298-301.
  • 2 additional annotations were made from Mounkes LC, etal., Nature 2003 May 15;423(6937):298-301.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • 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 LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LMNA (Homo sapiens) [(EXP) inferred from experiment]
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15726408 PMID:17469202 PMID:23217256 PMID:28229933 PMID:29703891


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Garg A, etal., J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83. doi: 10.1210/jc.2009-0472. Epub 2009 Oct 29.
  • The annotation has been inferred from sequence orthology with LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Garg A, etal., J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83. doi: 10.1210/jc.2009-0472. Epub 2009 Oct 29.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: DNA:missense mutations:cds:multiple


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Plasilova M, etal., J Med Genet. 2004 Aug;41(8):609-14.
  • The annotation has been inferred from sequence orthology with LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Plasilova M, etal., J Med Genet. 2004 Aug;41(8):609-14.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: DNA:missense mutation:exon:p.K542N (1626G>C) human


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Fong LG, etal., Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18111-6. Epub 2004 Dec 17.
  • 2 additional annotations were made from Fong LG, etal., Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18111-6. Epub 2004 Dec 17.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from De Sandre-Giovannoli A, etal., Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17.
  • The annotation has been inferred from sequence orthology with LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from De Sandre-Giovannoli A, etal., Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17.
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: DNA:silent mutation:cds:c.1824C>T (human)


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: OMIM:176670


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • 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 LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
  • Original References(s): PMID:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28878338 PMID:28878402 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29253866 PMID:29255176 PMID:29438482 PMID:29557732 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30595509 PMID:30847666 PMID:30871747 PMID:30911407 PMID:31006814 PMID:31019283 PMID:31038196 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32297714 PMID:32376792 PMID:32455078 PMID:32461654 PMID:32571898 PMID:32616434 PMID:32666643 PMID:32685188 PMID:32727917 PMID:32792077 PMID:32818388 PMID:32880476 PMID:32943904 PMID:33304817 PMID:33407844 PMID:33502018 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33893211 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34999423 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35533453 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:36971006 PMID:37246508 PMID:37679847 PMID:9500556 PMID:9536098


    • An association has been curated linking Lmna and progeria in Mus musculus.        

  • 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 LMNA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 20 RGD objects have been annotated to progeria  (DOID:3911)
  • 44 papers in RGD have been used to annotate Lmna
  • Curation Notes: ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome
  • Original References(s): PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11792809 PMID:11799477 PMID:11897440 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12702809 PMID:12714972 PMID:12716787 PMID:12768443 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14675861 PMID:14684700 PMID:14749366 PMID:15032975 PMID:15060110 PMID:15121795 PMID:15140538 PMID:15184648 PMID:15298354 PMID:15317753 PMID:15342704 PMID:15372542 PMID:15475483 PMID:15531479 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15793835 PMID:15965218 PMID:15982412 PMID:15998779 PMID:16061563 PMID:16126733 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:16738054 PMID:16965317 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17459035 PMID:17459069 PMID:17469202 PMID:17511383 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17711925 PMID:17760566 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18478590 PMID:1849984 PMID:18549403 PMID:18551513 PMID:18564364 PMID:18585512 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19172989 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:2007407 PMID:20130076 PMID:20160190 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20580717 PMID:20625965 PMID:20662858 PMID:20848652 PMID:20980393 PMID:21173262 PMID:21251803 PMID:21479595 PMID:21520333 PMID:21632249 PMID:21738662 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22065502 PMID:22068161 PMID:22148005 PMID:22177269 PMID:22186027 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22419169 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22611635 PMID:22685055 PMID:22700598 PMID:22883396 PMID:22893709 PMID:22918509 PMID:23141186 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23659872 PMID:23666920 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23969228 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24108105 PMID:24305605 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24623722 PMID:24639906 PMID:24642510 PMID:24687084 PMID:24721642 PMID:24846508 PMID:24915601 PMID:24943589 PMID:25025039 PMID:25214167 PMID:25286833 PMID:25326635 PMID:25351510 PMID:25524705 PMID:25525159 PMID:25556323 PMID:25567453 PMID:25617006 PMID:25637381 PMID:25649378 PMID:25741868 PMID:25873806 PMID:25885670 PMID:25946677 PMID:25982065 PMID:26027246 PMID:26084686 PMID:26165385 PMID:262236 PMID:26332594 PMID:26383259 PMID:26392352 PMID:26467025 PMID:26498160 PMID:26602028 PMID:26662654 PMID:26670336 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27199538 PMID:2733290 PMID:27332903 PMID:27334370 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:27920058 PMID:28074886 PMID:28082330 PMID:28087566


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