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GENE - TERM ANNOTATION REPORT

31 Annotations Found.

An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 PMID:16222657 PMID:17627385 PMID:17657824 PMID:19161152 PMID:19293843 PMID:23506379 PMID:24033266 PMID:24941995 PMID:25637381 PMID:25741868 PMID:25812041 PMID:25944730 PMID:26621581 PMID:26787436 PMID:27153395 PMID:27582083 PMID:28166811 PMID:28492532 PMID:28655553 PMID:31053375 PMID:9399842


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by OMIM:614185
  • Original References(s): PMID:1852206


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:10533071 PMID:12938084 PMID:16222657 PMID:17657824 PMID:17701892 PMID:21542060 PMID:24161884 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:11700157 PMID:11826022 PMID:11933199 PMID:12203987 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16342915 PMID:16971892 PMID:17627385 PMID:17657824 PMID:17679947 PMID:17701892 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18615205 PMID:19293843 PMID:19353630 PMID:20375004 PMID:20564469 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30675029 PMID:7802039 PMID:9399842


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:1852206 PMID:21683322 PMID:25741868 PMID:25979247 PMID:26380986 PMID:27935852 PMID:28492532 PMID:29620724


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:11068200 PMID:11700157 PMID:12446365 PMID:12938084 PMID:15054843 PMID:15161917 PMID:15241795 PMID:16571647 PMID:16677079 PMID:16971892 PMID:17418587 PMID:17657824 PMID:17679947 PMID:17701892 PMID:18079676 PMID:18087243 PMID:18615205 PMID:19159394 PMID:20564469 PMID:22772377 PMID:23719250 PMID:25053872 PMID:25741868 PMID:25944730 PMID:27353645 PMID:27611364 PMID:28492532 PMID:4750422 PMID:9338581 PMID:9399842 PMID:9401003


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:11700157 PMID:11933199 PMID:12938084 PMID:15241795 PMID:16756980 PMID:17657824 PMID:17718856 PMID:19293843 PMID:19618372 PMID:21907952 PMID:24033266 PMID:25741868 PMID:28050602 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:11700157 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15880509 PMID:16342915 PMID:16971892 PMID:17253931 PMID:17627385 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19863550 PMID:19941982 PMID:20564469 PMID:23794388 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:23608731 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25741868


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25142510


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25504618 PMID:25741868 PMID:26787436 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:17253931 PMID:17663468 PMID:18435798 PMID:19293843 PMID:19533785 PMID:25741868 PMID:27582083 PMID:28098115 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29907982


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12938084 PMID:14695540 PMID:15241795 PMID:17627385 PMID:17657824 PMID:19159394 PMID:19293843 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30739908


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10633129 PMID:11992479 PMID:17418587 PMID:17627385 PMID:17657824 PMID:21895641 PMID:23577066 PMID:24033266 PMID:24941995 PMID:25326635 PMID:25741868 PMID:25812041 PMID:25852444 PMID:28492532 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:12068374 PMID:12203992 PMID:12938084 PMID:16222657 PMID:17657824 PMID:19293843 PMID:19533785 PMID:19618372 PMID:2005308 PMID:25741868 PMID:26272055 PMID:28492532 PMID:28539832 PMID:29357934 PMID:29543232


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:12203992 PMID:12938084 PMID:16342915 PMID:17657824 PMID:18435798 PMID:19159394 PMID:19293843 PMID:24033266 PMID:24793577 PMID:25741868 PMID:25907466 PMID:27611364 PMID:28492532 PMID:29848614


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10464652 PMID:11933199 PMID:17627385 PMID:17657824 PMID:21542060 PMID:21907952 PMID:24033266 PMID:24161884 PMID:25101912 PMID:25741868 PMID:25907466 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:21542060 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:15241795 PMID:16756980 PMID:17627385 PMID:17657824 PMID:19161152 PMID:19328768 PMID:19839986 PMID:20564469 PMID:21895641 PMID:25741868 PMID:28492532 PMID:28650953 PMID:28973303 PMID:29543232 PMID:29907982 PMID:30341550


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:24033266 PMID:24793577 PMID:25741868 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:25741868 PMID:27930701 PMID:28492532


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:1852206 PMID:25741868


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:10533071 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28847661 PMID:29510914 PMID:30675029 PMID:9536098


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:11700157 PMID:11933199 PMID:17627385 PMID:17657824 PMID:19161152 PMID:24033266 PMID:24941995 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25944730 PMID:26498160 PMID:28166811 PMID:28492532 PMID:31211626


  • An association has been curated linking Fbn1 and geleophysic dysplasia 2 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 FBN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to geleophysic dysplasia 2  (DOID:0111726)
  • 66 papers in RGD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Geleophysic dysplasia 2
  • Original References(s): PMID:16220557 PMID:19012347 PMID:21883168 PMID:24033266 PMID:24833718 PMID:25741868 PMID:26333736 PMID:28166811 PMID:28492532 PMID:28659821 PMID:31163209 PMID:31211626


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