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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Levy E, etal., Life Sci. 2007 Mar 27;80(16):1472-83. Epub 2007 Jan 20.
  • 24 additional annotations were made from Levy E, etal., Life Sci. 2007 Mar 27;80(16):1472-83. Epub 2007 Jan 20.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: DNA:deletion:exon


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred from direct assay (IDA)
    		•  
  • The annotation was made from Sasaki N, etal., Biochem Biophys Res Commun 1994 Jul 15;202(1):512-8.
  • 2 additional annotations were made from Sasaki N, etal., Biochem Biophys Res Commun 1994 Jul 15;202(1):512-8.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b


    • An association has been curated linking Atp7b and Wilson disease 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 ATP7B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b


    • An association has been curated linking Atp7b and Wilson disease 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 ATP7B (Homo sapiens) [(EXP) inferred from experiment]
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:10686180 PMID:10790207 PMID:10830865 PMID:10982773 PMID:11157799 PMID:11405812 PMID:11472373 PMID:11803042 PMID:11854914 PMID:11985593 PMID:12228238 PMID:12544487 PMID:12820478 PMID:14574444 PMID:14579150 PMID:14998371 PMID:15135151 PMID:15147237 PMID:15911138 PMID:16133174 PMID:16607473 PMID:16824500 PMID:16932613 PMID:17182432 PMID:17276780 PMID:17634212 PMID:17919502 PMID:18371106 PMID:18779302 PMID:19888908 PMID:20647314 PMID:21146535 PMID:21242307 PMID:21364284 PMID:21406592 PMID:22130675 PMID:22455587 PMID:22565294 PMID:22677543 PMID:22802922 PMID:22945834 PMID:22981378 PMID:23235335 PMID:23333878 PMID:23789284 PMID:23843956 PMID:23963605 PMID:24094725 PMID:24892424 PMID:25003971 PMID:25134866


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Meng Y, etal., Biochim Biophys Acta 2004 Nov 5;1690(3):208-19.
  • The annotation has been inferred from sequence orthology with ATP7B (Homo sapiens) [(IDA) inferred from direct assay]
  • 14 additional annotations were made from Meng Y, etal., Biochim Biophys Acta 2004 Nov 5;1690(3):208-19.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Qualifier: treatment


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Merle U, etal., Scand J Gastroenterol. 2006 Aug;41(8):974-82. doi: 10.1080/00365520600554790.
  • The annotation has been inferred from sequence orthology with ATP7B (Homo sapiens) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from Merle U, etal., Scand J Gastroenterol. 2006 Aug;41(8):974-82. doi: 10.1080/00365520600554790.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Qualifier: treatment


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Schmitt F, etal., PLoS One. 2013 Dec 17;8(12):e82323. doi: 10.1371/journal.pone.0082323. eCollection 2013.
  • 4 additional annotations were made from Schmitt F, etal., PLoS One. 2013 Dec 17;8(12):e82323. doi: 10.1371/journal.pone.0082323. eCollection 2013.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: compared to LEA/Hok


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wu J, etal., Nat Genet 1994 Aug;7(4):541-5.
  • 4 additional annotations were made from Wu J, etal., Nat Genet 1994 Aug;7(4):541-5.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Fujiyoshi J, etal., Sci Rep. 2019 Feb 7;9(1):1535. doi: 10.1038/s41598-018-38275-y.
  • 31 additional annotations were made from Fujiyoshi J, etal., Sci Rep. 2019 Feb 7;9(1):1535. doi: 10.1038/s41598-018-38275-y.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: compared to LEA/Hok


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Okayasu T, etal., Pediatr Res. 1992 Mar;31(3):253-7. doi: 10.1203/00006450-199203000-00011.
  • 10 additional annotations were made from Okayasu T, etal., Pediatr Res. 1992 Mar;31(3):253-7. doi: 10.1203/00006450-199203000-00011.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b


    • An association has been curated linking Atp7b and Wilson disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sánchez-Monteagudo A, etal., Clin Genet. 2020 Feb 11. doi: 10.1111/cge.13719.
  • The annotation has been inferred from sequence orthology with ATP7B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sánchez-Monteagudo A, etal., Clin Genet. 2020 Feb 11. doi: 10.1111/cge.13719.
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: DNA:mutations:multiple:


    • An association has been curated linking Atp7b and Wilson disease 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 ATP7B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: ClinVar Annotator: match by term: Wilson disease
  • Original References(s): PMID:26031236 PMID:26032686 PMID:2610069 PMID:26206375 PMID:26207595 PMID:26215059 PMID:26253413 PMID:26269689 PMID:26275891 PMID:26286547 PMID:26466587 PMID:26483271 PMID:26580967 PMID:26650869 PMID:26660341 PMID:26752957 PMID:26764160 PMID:26782526 PMID:2679931 PMID:26799313 PMID:26807378 PMID:26819605 PMID:26829729 PMID:27022412 PMID:27122662 PMID:27398169 PMID:27437191 PMID:27499926 PMID:27528516 PMID:27535533 PMID:27638368 PMID:27706781 PMID:27930511 PMID:27935710 PMID:27941192 PMID:27982432 PMID:27992490 PMID:28119449 PMID:28212618 PMID:28265897 PMID:28271598 PMID:28392828 PMID:28433102 PMID:28443131 PMID:28488633 PMID:28492532 PMID:28507923 PMID:28515472 PMID:28554332 PMID:28564725 PMID:28602929 PMID:28717664 PMID:28753182 PMID:28776642 PMID:29063292 PMID:29085216 PMID:29163329 PMID:29181760 PMID:29321352 PMID:29356957 PMID:29381936 PMID:29418065 PMID:29431110 PMID:29473088 PMID:29482223 PMID:29540233 PMID:29637721 PMID:29649982 PMID:29674751 PMID:29761093 PMID:29790872 PMID:29907136 PMID:29914392 PMID:29915382 PMID:29930488 PMID:29961769 PMID:29979436 PMID:30087448 PMID:30097039 PMID:30120852 PMID:30212743 PMID:30230192 PMID:30232804 PMID:30254379 PMID:30275481 PMID:30366773 PMID:30384382 PMID:30426382 PMID:30556376 PMID:30558096 PMID:30609409 PMID:30655162 PMID:30676690 PMID:30702195 PMID:30723317 PMID:30842500 PMID:30884209 PMID:30980273 PMID:31000363 PMID:31010795 PMID:31059521 PMID:31169307 PMID:31172689 PMID:31286540 PMID:31408533 PMID:31449670 PMID:31474638 PMID:31589614 PMID:31598802 PMID:31620489 PMID:31637888 PMID:31664448 PMID:31708252 PMID:31738409 PMID:31743419 PMID:31751128 PMID:31783295 PMID:31804371 PMID:31942415 PMID:31980526 PMID:32043565 PMID:32067425 PMID:32118851 PMID:32154060 PMID:32248359 PMID:32270360 PMID:32284880 PMID:32532207 PMID:32539308 PMID:32613181 PMID:32618023 PMID:32685348 PMID:32770663 PMID:32778786 PMID:32794656 PMID:32901917 PMID:32911910 PMID:33098801 PMID:33100332 PMID:33159804 PMID:33223529 PMID:33258288 PMID:33260258 PMID:33265091 PMID:33640437 PMID:33668890 PMID:33719328 PMID:33763395 PMID:33948933 PMID:34002136 PMID:34240825 PMID:34324271 PMID:34381801 PMID:34400371 PMID:34426522 PMID:34470610 PMID:34539730 PMID:35079019 PMID:35193651 PMID:35864215 PMID:7626145 PMID:7726170 PMID:7833924 PMID:8203200 PMID:8298639 PMID:8298640 PMID:8298641 PMID:8526905 PMID:8533760 PMID:8782057 PMID:8931691 PMID:8936442 PMID:893844 PMID:8938442 PMID:8980283 PMID:9199563 PMID:9214248 PMID:9222767 PMID:9311736 PMID:9352458 PMID:9407345 PMID:9452121 PMID:9482578 PMID:9504786 PMID:9536098 PMID:9554743 PMID:9654149 PMID:9671269 PMID:9724794 PMID:9801873 PMID:9829905 PMID:9837819 PMID:9887381


    • An association has been curated linking Atp7b and Wilson disease 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 ATP7B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 53 RGD objects have been annotated to Wilson disease  (DOID:893)
  • 38 papers in RGD have been used to annotate Atp7b
  • Curation Notes: ClinVar Annotator: match by term: Wilson disease
  • Original References(s): PMID:10051024 PMID:10070620 PMID:10194254 PMID:10406672 PMID:10441329 PMID:10447265 PMID:10453196 PMID:10502776 PMID:10502777 PMID:10544227 PMID:10557326 PMID:10721669 PMID:10790207 PMID:10942420 PMID:10980554 PMID:10981891 PMID:10994503 PMID:11021476 PMID:11043508 PMID:11060541 PMID:11093740 PMID:11175281 PMID:11180609 PMID:11216666 PMID:11243728 PMID:11405812 PMID:11472373 PMID:11479773 PMID:11690702 PMID:11721763 PMID:11775208 PMID:11857545 PMID:11874474 PMID:11954751 PMID:12032531 PMID:12202071 PMID:12325021 PMID:12376745 PMID:12515040 PMID:12544487 PMID:12557139 PMID:12756138 PMID:12812649 PMID:12885331 PMID:12955875 PMID:14616767 PMID:14639035 PMID:14748773 PMID:14761325 PMID:14962673 PMID:14966923 PMID:14974157 PMID:14986826 PMID:15024742 PMID:15147237 PMID:15202786 PMID:15205462 PMID:15205742 PMID:15337266 PMID:15523622 PMID:15524314 PMID:15557537 PMID:15571607 PMID:15723329 PMID:15811015 PMID:15845031 PMID:15952988 PMID:15967699 PMID:15994426 PMID:16088907 PMID:16133174 PMID:16175588 PMID:16199547 PMID:16207219 PMID:16233999 PMID:16234011 PMID:16283883 PMID:16416207 PMID:16423615 PMID:16472602 PMID:16495228 PMID:16510432 PMID:16545904 PMID:16567646 PMID:16603785 PMID:16644258 PMID:16649058 PMID:16684691 PMID:16696937 PMID:16791614 PMID:16796414 PMID:16868807 PMID:16922724 PMID:16939419 PMID:16998287 PMID:16998622 PMID:17154398 PMID:17160357 PMID:17264425 PMID:17272994 PMID:17300695 PMID:17317524 PMID:17325640 PMID:17410460 PMID:17433323 PMID:17576681 PMID:17587212 PMID:17634212 PMID:17680703 PMID:17717039 PMID:17718866 PMID:17823867 PMID:17876883 PMID:17897870 PMID:17919502 PMID:17949296 PMID:18034201 PMID:18156766 PMID:18203200 PMID:18286826 PMID:18311837 PMID:18371106 PMID:18373411 PMID:18403153 PMID:18414213 PMID:18416466 PMID:18424137 PMID:18483695 PMID:18556333 PMID:18652531 PMID:18692069 PMID:18698682 PMID:18728530 PMID:18760268 PMID:18841562 PMID:18841564 PMID:18855987 PMID:19033537 PMID:19062534 PMID:19118915 PMID:19172127 PMID:19306278 PMID:19371217 PMID:19381668 PMID:19419418 PMID:19449859 PMID:19484379 PMID:19514071 PMID:19540904 PMID:19596473 PMID:19700008 PMID:19725132 PMID:19783880 PMID:19937698 PMID:20045993 PMID:20082719 PMID:20301685 PMID:20333758 PMID:20421574 PMID:20437613 PMID:20453399 PMID:20465995 PMID:20485189 PMID:20491539 PMID:20517649 PMID:20931554 PMID:20958917 PMID:20967755 PMID:21034864 PMID:21219664 PMID:21334398 PMID:21350584 PMID:21398519 PMID:21454443 PMID:21593220 PMID:21610751 PMID:21645214 PMID:21682854 PMID:21707886 PMID:21794208 PMID:21796144 PMID:21832955 PMID:21925265 PMID:21956287 PMID:21982967 PMID:22019423 PMID:22046264 PMID:22087377 PMID:22093921 PMID:22106832 PMID:22170460 PMID:22221592 PMID:22240481 PMID:22286624 PMID:22308153 PMID:22484412 PMID:22494076 PMID:22677543 PMID:22687675 PMID:22692182 PMID:22720273 PMID:22720308 PMID:22730635 PMID:22735241 PMID:22745856 PMID:22763723 PMID:22774841 PMID:22806248 PMID:22820477 PMID:22898812 PMID:22940187 PMID:22955616 PMID:23158531 PMID:23159873 PMID:23219664 PMID:23235335 PMID:23275100 PMID:23333878 PMID:2333878 PMID:23382538 PMID:23389864 PMID:23430806 PMID:23430908 PMID:23486543 PMID:23518715 PMID:23525077 PMID:23551039 PMID:23556051 PMID:23567103 PMID:23607698 PMID:23774950 PMID:23789284 PMID:23843956 PMID:23885147 PMID:23962630 PMID:23982005 PMID:24003324 PMID:24010089 PMID:24023303 PMID:24033266 PMID:2409472 PMID:24094725 PMID:24118554 PMID:24119323 PMID:24146181 PMID:24253677 PMID:24475083 PMID:24476933 PMID:24517292 PMID:24555712 PMID:24661374 PMID:24668339 PMID:24706876 PMID:24718822 PMID:24720933 PMID:24794161 PMID:24798599 PMID:24878384 PMID:24897373 PMID:24909901 PMID:24932333 PMID:25014046 PMID:25046119 PMID:25086856 PMID:25089800 PMID:25130000 PMID:25199035 PMID:25327413 PMID:25333069 PMID:25376582 PMID:25390358 PMID:25465132 PMID:25497208 PMID:25516681 PMID:25525159 PMID:25617204 PMID:25637381 PMID:25678388 PMID:25704483 PMID:25704634 PMID:25741868 PMID:25825851 PMID:25982861 PMID:25988284 PMID:26004889


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