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GENE - TERM ANNOTATION REPORT

28 Annotations Found.

An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
  • Original References(s): PMID:12525539


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:10930463, PMID:11700157, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15880509, PMID:16342915, PMID:16571647, PMID:16971892, PMID:17253931, PMID:17627385, PMID:17663468, PMID:17679947, PMID:17701892, PMID:18087243, PMID:18615205, PMID:19863550, PMID:19941982, PMID:20564469, PMID:23794388, PMID:24033266, PMID:25741868, PMID:27437668, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:23608731, PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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:28492532, PMID:28655553, PMID:9399842


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25741868


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25741868, PMID:30311386


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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:30311386


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25504618, PMID:25741868, PMID:26787436, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25741868, PMID:28492532, PMID:29907982


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:11700157, PMID:11933199, PMID:12938084, PMID:15241795, PMID:16756980, PMID:17718856, PMID:19618372, PMID:21907952, PMID:24033266, PMID:25741868, PMID:28050602, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:21542060, PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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 Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • 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:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:25741868, PMID:27930701, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:10533071, PMID:25741868, PMID:28492532, PMID:28847661, PMID:29510914, PMID:30675029


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:24033266, PMID:24793577, PMID:25741868, PMID:28492532


  • An association has been curated linking Fbn1 and Weill-Marchesani Syndrome 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 CRRD objects have been annotated to Weill-Marchesani Syndrome 2  (DOID:9001464)
  • 66 papers in CRRD have been used to annotate Fbn1
  • Curation Notes: ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
  • Original References(s): PMID:16220557, PMID:19012347, PMID:21883168, PMID:24033266, PMID:24833718, PMID:25741868, PMID:26333736, PMID:28492532, PMID:28659821, PMID:31163209, PMID:31211626


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.