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GENE - TERM ANNOTATION REPORT

18 Annotations Found.

An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Jabs EW, etal., Nat Genet. 1994 Nov;8(3):275-9.
  • 5 additional annotations were made from Jabs EW, etal., Nat Genet. 1994 Nov;8(3):275-9.
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: DNA:missense mutation:cds:p.R344G (human)


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599330 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:10541159 PMID:10633130 PMID:12884424 PMID:12884434 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26362256 PMID:28492532 PMID:7987400 PMID:8644708 PMID:9385368 PMID:9586546


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599339 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:16418739 PMID:19066959 PMID:25741868 PMID:28492532 PMID:7581378 PMID:7655462 PMID:8644708


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11601769|RGD:11602076|RGD:11634722|RGD:11645644 (Homo sapiens) & RGD:11601769|RGD:11602076|RGD:11634722|RGD:11645644 (Homo sapiens) & RGD:11601769|RGD:11602076|RGD:11634722|RGD:11645644 (Homo sapiens) & RGD:11601769|RGD:11602076|RGD:11634722|RGD:11645644 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11599098|RGD:11650487|RGD:28901285 (Homo sapiens) & RGD:11599098|RGD:11650487|RGD:28901285 (Homo sapiens) & RGD:11599098|RGD:11650487|RGD:28901285 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:25741868


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599335 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16440883 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24489893 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599331 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:16158432 PMID:16418739 PMID:16838304 PMID:24127277 PMID:25741868 PMID:28492532 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8957519


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599329 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:10633130 PMID:12884424 PMID:24127277 PMID:25741868 PMID:25759925 PMID:28492532 PMID:7719345 PMID:7987400 PMID:8528214


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8687665 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12739113 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:12884424 PMID:12884434 PMID:24127277 PMID:25271085 PMID:26362256 PMID:27481450 PMID:28492532 PMID:7655462 PMID:8644708 PMID:9586546 PMID:9677057


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens) & RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens) & RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens) & RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens) & RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens) & RGD:127282707|RGD:12837393|RGD:13541996|RGD:13806343|RGD:15112819|RGD:28904328 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13522857 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:25741868 PMID:28492532 PMID:36474027


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599332 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:11556600 PMID:22665975 PMID:25741868 PMID:28492532 PMID:7581378 PMID:7719329 PMID:7874170 PMID:7987400 PMID:8644708


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12739117 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Jackson-Weiss syndrome
  • Original References(s): PMID:12884424 PMID:12884434 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26362256 PMID:28492532 PMID:8644708 PMID:9385368 PMID:9586546


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599340 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:12000365 PMID:12145519 PMID:12900900 PMID:16531735 PMID:17525745 PMID:20856019 PMID:21367659 PMID:21397175 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25937001 PMID:27079505 PMID:28492532 PMID:8696350


    • An association has been curated linking FGFR2 and Jackson-Weiss syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8599336 (Homo sapiens)
  • 2 RGD objects have been annotated to Jackson-Weiss syndrome  (DOID:0111337)
  • 84 papers in RGD have been used to annotate FGFR2
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • Original References(s): PMID:11390973 PMID:12124745 PMID:15389579 PMID:16969861 PMID:17251833 PMID:20301628 PMID:20489451 PMID:23786770 PMID:24656465 PMID:25741868 PMID:25867380 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:7668257 PMID:7719344 PMID:8651276 PMID:9677057 PMID:9700203


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