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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Gla and Fabry disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bernstein HS, etal., J Clin Invest. 1989 Apr;83(4):1390-9.
  • The annotation has been inferred from sequence orthology with GLA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bernstein HS, etal., J Clin Invest. 1989 Apr;83(4):1390-9.
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: DNA:point mutation:exon:R356W


    • An association has been curated linking Gla and Fabry disease 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 GLA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla


    • An association has been curated linking Gla and Fabry disease 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 GLA (Homo sapiens) [(EXP) inferred from experiment]
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18565198 PMID:19925601 PMID:22773828


    • An association has been curated linking Gla and Fabry disease 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
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: OMIM:301500


    • An association has been curated linking Gla and Fabry disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Miller JJ, etal., JCI Insight. 2018 Mar 22;3(6). pii: 99171. doi: 10.1172/jci.insight.99171.
  • The annotation has been inferred from sequence orthology with Gla (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 33 additional annotations were made from Miller JJ, etal., JCI Insight. 2018 Mar 22;3(6). pii: 99171. doi: 10.1172/jci.insight.99171.
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla


    • An association has been curated linking Gla and Fabry disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Waltz TB, etal., Neurobiol Pain. 2021 Sep 2;10:100074. doi: 10.1016/j.ynpai.2021.100074. eCollection 2021 Aug-Dec.
  • The annotation has been inferred from sequence orthology with Gla (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 27 additional annotations were made from Waltz TB, etal., Neurobiol Pain. 2021 Sep 2;10:100074. doi: 10.1016/j.ynpai.2021.100074. eCollection 2021 Aug-Dec.
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: compared to wild type


    • An association has been curated linking Gla and Fabry disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kanack AJ, etal., FASEB J. 2021 Aug;35(8):e21818. doi: 10.1096/fj.202001727RR.
  • The annotation has been inferred from sequence orthology with Gla (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 60 additional annotations were made from Kanack AJ, etal., FASEB J. 2021 Aug;35(8):e21818. doi: 10.1096/fj.202001727RR.
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: compared to wild type


    • An association has been curated linking Gla and Fabry disease in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Miller JJ, etal., FASEB J. 2019 Jan;33(1):418-429. doi: 10.1096/fj.201800771R. Epub 2018 Jul 6.
  • The annotation has been inferred from sequence orthology with Gla (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 79 additional annotations were made from Miller JJ, etal., FASEB J. 2019 Jan;33(1):418-429. doi: 10.1096/fj.201800771R. Epub 2018 Jul 6.
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: compared to wild type


    • An association has been curated linking Gla and Fabry disease 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 GLA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
  • Original References(s): PMID:36087038 PMID:36140787 PMID:36156392 PMID:36292965 PMID:36383556 PMID:36564230 PMID:36709535 PMID:36745055 PMID:36873653 PMID:37205992 PMID:37441486 PMID:37480128 PMID:38002959 PMID:6379599 PMID:7504405 PMID:7531540 PMID:7575533 PMID:7596372 PMID:7599642 PMID:7759078 PMID:7911050 PMID:7951217 PMID:8012363 PMID:8069316 PMID:8395937 PMID:8411052 PMID:8738659 PMID:8768754 PMID:8807334 PMID:8834244 PMID:8863162 PMID:8875188 PMID:8878432 PMID:8931708 PMID:8996967 PMID:9100224 PMID:9105656 PMID:9116979 PMID:9268104 PMID:9395081 PMID:9452068 PMID:9452090 PMID:9452111 PMID:9536098 PMID:9554750 PMID:9620884 PMID:9883849


    • An association has been curated linking Gla and Fabry disease 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 GLA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
  • Original References(s): PMID:10090526 PMID:10200059 PMID:10208848 PMID:10360396 PMID:105759 PMID:10649504 PMID:10666480 PMID:10838196 PMID:10916280 PMID:11076046 PMID:11137837 PMID:11145098 PMID:11179018 PMID:11295840 PMID:11322659 PMID:11531969 PMID:11531972 PMID:11668641 PMID:11688386 PMID:11804208 PMID:11828341 PMID:11889412 PMID:11914245 PMID:12068026 PMID:12175777 PMID:12207598 PMID:12359124 PMID:12428061 PMID:12429061 PMID:12480979 PMID:12512750 PMID:12668521 PMID:12694230 PMID:12778775 PMID:12786754 PMID:12796853 PMID:12911529 PMID:12920095 PMID:12938095 PMID:1315304 PMID:1315715 PMID:14635108 PMID:14680977 PMID:15003450 PMID:15086478 PMID:15091117 PMID:15100373 PMID:15162124 PMID:15339079 PMID:15353880 PMID:15492942 PMID:15611419 PMID:15661032 PMID:15695328 PMID:15702403 PMID:15702404 PMID:15712228 PMID:15713906 PMID:15776423 PMID:15806320 PMID:15861341 PMID:15924232 PMID:15947062 PMID:16148726 PMID:16199547 PMID:16215932 PMID:16224739 PMID:16232095 PMID:1650161 PMID:16533976 PMID:16595074 PMID:16626582 PMID:1668641 PMID:16720462 PMID:16754800 PMID:1677356 PMID:16773563 PMID:16862044 PMID:17040996 PMID:17057070 PMID:17206462 PMID:17224688 PMID:17437606 PMID:17452128 PMID:17532296 PMID:1753437 PMID:17555407 PMID:17576681 PMID:17656478 PMID:17713670 PMID:17804462 PMID:18003767 PMID:18023222 PMID:18046674 PMID:18057066 PMID:18154965 PMID:18154966 PMID:18205205 PMID:18287059 PMID:18297328 PMID:18387337 PMID:18424138 PMID:1846223 PMID:18472290 PMID:18555667 PMID:18560446 PMID:18596132 PMID:18633574 PMID:18698230 PMID:18724168 PMID:18784903 PMID:18830871 PMID:18849176 PMID:18974770 PMID:19265719 PMID:19285316 PMID:19287194 PMID:19320660 PMID:19343533 PMID:19373884 PMID:19387866 PMID:19419768 PMID:19621417 PMID:19763152 PMID:19823873 PMID:19941952 PMID:20022777 PMID:20031620 PMID:20110537 PMID:20122163 PMID:20139917 PMID:20300124 PMID:20307669 PMID:20360539 PMID:20367968 PMID:20464614 PMID:20498269 PMID:20505683 PMID:20615758 PMID:20628902 PMID:20629180 PMID:20716442 PMID:20821055 PMID:20864368 PMID:21062768 PMID:21092187 PMID:21138548 PMID:21229318 PMID:21305660 PMID:21333496 PMID:21353612 PMID:21420783 PMID:21517827 PMID:2152885 PMID:21549080 PMID:21587323 PMID:21598360 PMID:2160973 PMID:21683120 PMID:21700093 PMID:2171331 PMID:21804088 PMID:21890869 PMID:21896204 PMID:21946453 PMID:21972175 PMID:22004918 PMID:22063097 PMID:22078290 PMID:22176145 PMID:22205110 PMID:22226368 PMID:22227322 PMID:22241068 PMID:22305854 PMID:22336178 PMID:22378313 PMID:22406018 PMID:22437327 PMID:22472932 PMID:22498845 PMID:22551898 PMID:22563919 PMID:22682330 PMID:22695894 PMID:22773828 PMID:22805550 PMID:22874111 PMID:22880956 PMID:22905681 PMID:23109060 PMID:23146289 PMID:23210910 PMID:23219219 PMID:23248976 PMID:23305247 PMID:23306324 PMID:23307880 PMID:23332617 PMID:23378663 PMID:23387234 PMID:23393592 PMID:23430502 PMID:23430526 PMID:23430848 PMID:23430946 PMID:23465405 PMID:23474038 PMID:23537685 PMID:23566439 PMID:23568732 PMID:23591357 PMID:23608164 PMID:23677059 PMID:23691425 PMID:23724928 PMID:23756194 PMID:23818648 PMID:23826564 PMID:23867994 PMID:23913314 PMID:23922385 PMID:23935525 PMID:23980562 PMID:24015197 PMID:24033266 PMID:24082139 PMID:24094560 PMID:24236025 PMID:24334114 PMID:24365053 PMID:24380807 PMID:24386359 PMID:24395922 PMID:24496231 PMID:24503780 PMID:24582695 PMID:24613481 PMID:24626231 PMID:24626659 PMID:24661928 PMID:24718812 PMID:24784157 PMID:24829596 PMID:24830310 PMID:24980630 PMID:25026990 PMID:25040344 PMID:25078086 PMID:25086909 PMID:25149322 PMID:25179549 PMID:25319043 PMID:25382311 PMID:25386848 PMID:2539398 PMID:25395255 PMID:25409744 PMID:25439755 PMID:25468650 PMID:25468652 PMID:25487570 PMID:25511234 PMID:25525159 PMID:25531941 PMID:25596309 PMID:25611685 PMID:25619383 PMID:25637381 PMID:25640679 PMID:25655062 PMID:25663229 PMID:25666440 PMID:25677671 PMID:25741868 PMID:25750198 PMID:25762495 PMID:25772321 PMID:25795794 PMID:25835592 PMID:25865499 PMID:25896551 PMID:25900714 PMID:25949379 PMID:25955246 PMID:25965380


    • An association has been curated linking Gla and Fabry disease 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 GLA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to Fabry disease  (DOID:14499)
  • 16 papers in RGD have been used to annotate Gla
  • Curation Notes: ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
  • Original References(s): PMID:25974833 PMID:25977923 PMID:26044846 PMID:26047621 PMID:26070511 PMID:26083343 PMID:26179544 PMID:26238931 PMID:26252393 PMID:26272908 PMID:26297554 PMID:26298600 PMID:26305465 PMID:26333625 PMID:26384850 PMID:26415523 PMID:26424312 PMID:26456105 PMID:26490103 PMID:26563328 PMID:26593248 PMID:26629990 PMID:26631895 PMID:26652600 PMID:26691501 PMID:26866599 PMID:26869469 PMID:26880903 PMID:26937405 PMID:26990548 PMID:27081853 PMID:27083555 PMID:27129690 PMID:27142856 PMID:27160240 PMID:27211852 PMID:27225851 PMID:27238910 PMID:27356758 PMID:27431810 PMID:2744760 PMID:27531472 PMID:27532257 PMID:27554049 PMID:27560961 PMID:27576502 PMID:27585509 PMID:27595546 PMID:27629047 PMID:27657681 PMID:27773586 PMID:27825144 PMID:27831900 PMID:27832731 PMID:27834756 PMID:27896102 PMID:27896103 PMID:27916943 PMID:27931613 PMID:27979989 PMID:27992580 PMID:28069318 PMID:28082092 PMID:28253518 PMID:28275245 PMID:28276057 PMID:28299312 PMID:28302345 PMID:28332257 PMID:28340691 PMID:28340804 PMID:28360401 PMID:2836863 PMID:28377241 PMID:28382085 PMID:28389313 PMID:28409012 PMID:28430823 PMID:28492532 PMID:28496025 PMID:28500230 PMID:28596458 PMID:28615118 PMID:28625968 PMID:28646478 PMID:28649509 PMID:28672034 PMID:28682471 PMID:28717668 PMID:28723748 PMID:28728877 PMID:28736719 PMID:28749998 PMID:28756410 PMID:28768754 PMID:28771489 PMID:28798024 PMID:28799081 PMID:28877708 PMID:28892806 PMID:28941980 PMID:28943383 PMID:28964554 PMID:28977874 PMID:28988177 PMID:29018006 PMID:29019163 PMID:29037082 PMID:29044343 PMID:29079200 PMID:29121657 PMID:29132836 PMID:29143201 PMID:29186537 PMID:29203563 PMID:29204651 PMID:29227985 PMID:29247119 PMID:29305833 PMID:29307789 PMID:29326878 PMID:29330335 PMID:29361493 PMID:29437868 PMID:29476735 PMID:29487688 PMID:29491734 PMID:29530533 PMID:29543226 PMID:29621274 PMID:29631605 PMID:29649853 PMID:29661900 PMID:29688992 PMID:29688998 PMID:29770213 PMID:29794742 PMID:29853467 PMID:29867742 PMID:29875425 PMID:29982630 PMID:30023289 PMID:30038331 PMID:30064518 PMID:30085001 PMID:30093709 PMID:30103270 PMID:30201457 PMID:30246259 PMID:30261035 PMID:30380558 PMID:30385651 PMID:30386727 PMID:30474596 PMID:30477121 PMID:30497360 PMID:30568064 PMID:30569317 PMID:30571380 PMID:30594474 PMID:30644091 PMID:30658922 PMID:30662066 PMID:30677769 PMID:30715505 PMID:30731207 PMID:30739116 PMID:30762167 PMID:30773290 PMID:30804731 PMID:30834538 PMID:30853972 PMID:30890379 PMID:30902821 PMID:30972193 PMID:30985853 PMID:30988410 PMID:31010832 PMID:31020198 PMID:31028938 PMID:31036492 PMID:31065389 PMID:31200018 PMID:31213654 PMID:31243236 PMID:31291414 PMID:31319156 PMID:31321922 PMID:31367522 PMID:31372342 PMID:31392112 PMID:31446751 PMID:31449323 PMID:31519519 PMID:31566927 PMID:31613176 PMID:31620600 PMID:31634893 PMID:31649303 PMID:31650418 PMID:31654629 PMID:31664448 PMID:31795557 PMID:31798221 PMID:31860127 PMID:31907047 PMID:31949022 PMID:31956509 PMID:31996269 PMID:32011328 PMID:32023956 PMID:32036093 PMID:32042454 PMID:32099817 PMID:32109691 PMID:32127409 PMID:32150461 PMID:32161151 PMID:32198894 PMID:32203225 PMID:32246049 PMID:32246457 PMID:32281532 PMID:32306159 PMID:32418857 PMID:32432376 PMID:32435590 PMID:32442237 PMID:32486191 PMID:32531501 PMID:32583479 PMID:32699723 PMID:32714835 PMID:32719972 PMID:32789421 PMID:32793709 PMID:32797665 PMID:32802993 PMID:32806660 PMID:32813676 PMID:32843101 PMID:32860008 PMID:32883051 PMID:32901917 PMID:32963035 PMID:32995357 PMID:33016649 PMID:33022387 PMID:33036343 PMID:33040545 PMID:33072983 PMID:33073010 PMID:33163363 PMID:33179747 PMID:33204599 PMID:33301762 PMID:33335842 PMID:33437642 PMID:33495303 PMID:33495597 PMID:33527381 PMID:33543778 PMID:33545641 PMID:33617311 PMID:33663879 PMID:33673806 PMID:33712733 PMID:33807900 PMID:33835496 PMID:33907643 PMID:34199132 PMID:34205365 PMID:34401344 PMID:34545322 PMID:34679477 PMID:34803097 PMID:34905550 PMID:35035949 PMID:35548424 PMID:35743592 PMID:35743707 PMID:35870541 PMID:35971858 PMID:35977816 PMID:36013057


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