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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Jin J, etal., Int J Dev Neurosci. 2008 Aug;26(5):457-65. doi: 10.1016/j.ijdevneu.2008.02.009. Epub 2008 Mar 4.
  • 2 additional annotations were made from Jin J, etal., Int J Dev Neurosci. 2008 Aug;26(5):457-65. doi: 10.1016/j.ijdevneu.2008.02.009. Epub 2008 Mar 4.
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guy J, etal., Nat Genet. 2001 Mar;27(3):322-6.
  • The annotation has been inferred from sequence orthology with Mecp2 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Guy J, etal., Nat Genet. 2001 Mar;27(3):322-6.
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bourdon V, etal., Hum Genet. 2001 Jan;108(1):43-50.
  • The annotation has been inferred from sequence orthology with MECP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bourdon V, etal., Hum Genet. 2001 Jan;108(1):43-50.
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Archer HL, etal., J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.
  • The annotation has been inferred from sequence orthology with MECP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Archer HL, etal., J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Curation Notes: DNA:deletions:exons, introns, 3' utr:multiple (human)


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • 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 MECP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Curation Notes: ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder
  • Original References(s): PMID:24399845 PMID:24453408 PMID:24508304 PMID:24511209 PMID:2460487 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25124696 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25541993 PMID:25590979 PMID:25634563 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26544843 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27354166 PMID:27356039 PMID:27442528 PMID:27465203 PMID:27781091 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28394482 PMID:28397838 PMID:28465761 PMID:28492532 PMID:28544139 PMID:28785396 PMID:28831199 PMID:28973632 PMID:29046627 PMID:29482495 PMID:29655203 PMID:29718204 PMID:29720203 PMID:29961512 PMID:30081849 PMID:30083362 PMID:30536762 PMID:30564305 PMID:30569584 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31164858 PMID:31206249 PMID:31439979 PMID:31535341 PMID:31629770 PMID:31958484 PMID:32105570 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32581362 PMID:32860008 PMID:34008892 PMID:34324427 PMID:34837432 PMID:4413922 PMID:5300597 PMID:8166633 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9536098 PMID:9546328


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • 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 MECP2 (Homo sapiens) [(EXP) inferred from experiment]
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:14593183 PMID:16670375 PMID:17433737 PMID:19000991 PMID:19190538 PMID:19559301 PMID:19921286 PMID:20098342 PMID:21316312 PMID:21966470 PMID:22343140 PMID:22532851 PMID:23892605 PMID:26214522 PMID:28498846 PMID:28592917 PMID:33010341


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Wu Y, etal., J Neurodev Disord. 2016 Jun 16;8:23. doi: 10.1186/s11689-016-9156-7. eCollection 2016.
  • 38 additional annotations were made from Wu Y, etal., J Neurodev Disord. 2016 Jun 16;8:23. doi: 10.1186/s11689-016-9156-7. eCollection 2016.
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • 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 MECP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Qualifier: susceptibility


    • An association has been curated linking Mecp2 and Rett syndrome in Rattus norvegicus.        

  • 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 MECP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 36 RGD objects have been annotated to Rett syndrome  (DOID:1206)
  • 55 papers in RGD have been used to annotate Mecp2
  • Curation Notes: ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder
  • Original References(s): PMID:10508514 PMID:1057790 PMID:10577905 PMID:10737989 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11005791 PMID:11007980 PMID:11022934 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:1105898 PMID:11071498 PMID:11106359 PMID:11180222 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524737 PMID:11524741 PMID:11738860 PMID:11738862 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11768391 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913564 PMID:11913567 PMID:1191367 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081720 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:1241840 PMID:12418965 PMID:12481990 PMID:12552569 PMID:12567420 PMID:12615169 PMID:12655490 PMID:12661945 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12884430 PMID:12966522 PMID:12966523 PMID:1402105 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15241799 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15675358 PMID:15689438 PMID:15691364 PMID:15712379 PMID:15718369 PMID:15737703 PMID:15841480 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16199547 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16630165 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16829352 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:16966553 PMID:17026625 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17505203 PMID:17576681 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18313390 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18652533 PMID:18678449 PMID:18688080 PMID:18842453 PMID:18989701 PMID:19034540 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19365833 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20573179 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21228398 PMID:21300488 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21600714 PMID:21695138 PMID:21764336 PMID:21807996 PMID:21812101 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21982064 PMID:22001500 PMID:22106023 PMID:22182064 PMID:22190343 PMID:22213695 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22561697 PMID:22923521 PMID:2323808 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23352163 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23866855 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24321989 PMID:24328834


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