Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

10 Annotations Found.

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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Shukla V, etal., Nat Genet. 2007 Sep;39(9):1145-50. Epub 2007 Aug 12.
  • The annotation has been inferred from sequence orthology with Fgfr2 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Shukla V, etal., Nat Genet. 2007 Sep;39(9):1145-50. Epub 2007 Aug 12.
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Qualifier: treatment


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jay S, etal., Am J Med Genet A. 2013 May;161A(5):1158-63. doi: 10.1002/ajmg.a.35842. Epub 2013 Mar 26.
  • 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 Jay S, etal., Am J Med Genet A. 2013 May;161A(5):1158-63. doi: 10.1002/ajmg.a.35842. Epub 2013 Mar 26.
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutation:cds:p.A172F (human)


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Passos-Bueno MR, etal., Am J Med Genet. 1998 Jul 7;78(3):237-41.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Passos-Bueno MR, etal., Am J Med Genet. 1998 Jul 7;78(3):237-41.
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations:cds:p.S252W, p.P253R (human)


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Park WJ, etal., Am J Hum Genet. 1995 Aug;57(2):321-8.
  • 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 Park WJ, etal., Am J Hum Genet. 1995 Aug;57(2):321-8.
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking Fgfr2 and acrocephalosyndactylia 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]
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from von Gernet S, etal., Clin Genet. 2000 Feb;57(2):137-9.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from von Gernet S, etal., Clin Genet. 2000 Feb;57(2):137-9.
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:p.P253R (human)


    • An association has been curated linking Fgfr2 and acrocephalosyndactylia 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]
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9002682 PMID:9502772 PMID:17694057 PMID:19186770


    • An association has been curated linking Fgfr2 and acrocephalosyndactylia 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]
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
  • Original References(s): PMID:10394936 PMID:10618369 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:18552176 PMID:18726952 PMID:20133659 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28166811 PMID:28492532 PMID:31145570 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9521581 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282


    • An association has been curated linking Fgfr2 and acrocephalosyndactylia 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]
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: OMIM:101200


    • An association has been curated linking Fgfr2 and acrocephalosyndactylia 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]
  • 88 RGD objects have been annotated to acrocephalosyndactylia  (DOID:12960)
  • 101 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
  • Original References(s): PMID:10394936 PMID:10618369 PMID:10851026 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:16158432 PMID:1641873 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:270283566 PMID:27079505 PMID:27683237 PMID:28492532 PMID:28611549 PMID:30919572 PMID:31145570 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282


    • Go Back to source page   Continue to Ontology report