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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Fgfr2 and Crouzon syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tsai FJ, etal., Pediatr Int. 2001 Jun;43(3):263-6.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Tsai FJ, etal., Pediatr Int. 2001 Jun;43(3):263-6.
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations:cds:p.Y281C, p.G289P (human)


    • An association has been curated linking Fgfr2 and Crouzon syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sakai N, etal., J Craniofac Surg. 2001 Nov;12(6):580-5.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sakai N, etal., J Craniofac Surg. 2001 Nov;12(6):580-5.
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


    • An association has been curated linking Fgfr2 and Crouzon syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jabs EW, etal., Nat Genet. 1994 Nov;8(3):275-9.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Jabs EW, etal., Nat Genet. 1994 Nov;8(3):275-9.
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations, silent mutation:cds:multiple (human)


    • An association has been curated linking Fgfr2 and Crouzon syndrome 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2


    • An association has been curated linking Fgfr2 and Crouzon syndrome 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 FGFR2 (Homo sapiens) [(EXP) inferred from experiment]
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9152842


    • An association has been curated linking Fgfr2 and Crouzon syndrome 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome
  • Original References(s): PMID:10067911 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10712195 PMID:10735635 PMID:10851026 PMID:10874645 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11325814 PMID:11343323 PMID:11390973 PMID:11556600 PMID:11711827 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12186468 PMID:12357470 PMID:12477974 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:1519658 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15793702 PMID:15883293 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:1641873 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16501574 PMID:16531735 PMID:16740155 PMID:16838304 PMID:16969861 PMID:1697263 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:18552176 PMID:18726952 PMID:19066959 PMID:19610084 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21367659 PMID:21397175 PMID:2172978 PMID:22238366 PMID:22387015 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:23995961 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25209230 PMID:25245177 PMID:25271085 PMID:25343114 PMID:25361936 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26362256 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26557159 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27430617 PMID:27481450 PMID:27683237 PMID:28492532 PMID:28611549 PMID:28901406 PMID:29037998 PMID:31145570 PMID:4078868 PMID:7573032 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8434615 PMID:8522336 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9048930 PMID:9152842 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9521581 PMID:9536098 PMID:9539778 PMID:9585583 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378


    • An association has been curated linking Fgfr2 and Crouzon syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Reardon W, etal., Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Reardon W, etal., Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98.
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations:CDS:multiple (human)


    • An association has been curated linking Fgfr2 and Crouzon syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Fgfr2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to Crouzon syndrome  (DOID:2339)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: OMIM:123500


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