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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Sialuria
  • Original References(s): PMID:10330343 PMID:10356312 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301343 PMID:20301439 PMID:21294420 PMID:21436238 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:22507750 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25123033 PMID:25182749 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453 PMID:9536098


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria
  • Original References(s): PMID:10330343 PMID:10356312 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301439 PMID:21294420 PMID:21436238 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:22507750 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23549799 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25002140 PMID:25123033 PMID:25182749 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
  • Original References(s): PMID:10330343 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301439 PMID:21294420 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25002140 PMID:25123033 PMID:25182749 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453 PMID:9536098


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type
  • Original References(s): PMID:10330343 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301343 PMID:20301439 PMID:21294420 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25002140 PMID:25123033 PMID:25182749 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453 PMID:9536098


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria
  • Original References(s): PMID:10330343 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301343 PMID:20301439 PMID:21294420 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25123033 PMID:25182749 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453 PMID:9536098


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(EXP) inferred from experiment]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Gne and sialuria 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 GNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to sialuria  (DOID:3659)
  • 21 papers in RGD have been used to annotate Gne
  • Curation Notes: ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria
  • Original References(s): PMID:10330343 PMID:10356312 PMID:11326336 PMID:11528398 PMID:12325084 PMID:12473753 PMID:12473780 PMID:12497639 PMID:12743242 PMID:14707127 PMID:14972325 PMID:15136692 PMID:15147877 PMID:15670773 PMID:15987957 PMID:16503651 PMID:16810679 PMID:17576681 PMID:18555875 PMID:19917666 PMID:20059379 PMID:20175955 PMID:20300792 PMID:20301343 PMID:20301439 PMID:21294420 PMID:21436238 PMID:21708040 PMID:21873062 PMID:22196754 PMID:22322304 PMID:23278550 PMID:23437777 PMID:23496965 PMID:23806237 PMID:24005727 PMID:24027297 PMID:24033266 PMID:2443758 PMID:24695763 PMID:24707269 PMID:24796702 PMID:25123033 PMID:25182749 PMID:25590979 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27457812 PMID:27535533 PMID:27829678 PMID:27858732 PMID:27919547 PMID:2808337 PMID:28320138 PMID:28492532 PMID:28641925 PMID:28717665 PMID:29480215 PMID:30842975 PMID:30990900 PMID:33250842 PMID:8439453 PMID:9536098


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