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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking FGFR3 and achondroplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Bellus GA, etal., Am J Med Genet. 1999 Jul 2;85(1):53-65.
  • 5 additional annotations were made from Bellus GA, etal., Am J Med Genet. 1999 Jul 2;85(1):53-65.
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Qualifier: severity
  • Curation Notes: DNA:mutation:cds:p.K650M(human)

  • This annotation was curated on 2018-05-12 09:00:36.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Rousseau F, etal., Nature. 1994 Sep 15;371(6494):252-4.
  • 2 additional annotations were made from Rousseau F, etal., Nature. 1994 Sep 15;371(6494):252-4.
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: DNA:missense mutation:cds:p.G380R (human)

  • This annotation was curated on 2018-05-12 09:01:05.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8573406 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:11055896, PMID:17875876, PMID:18583390, PMID:25741868, PMID:25809207, PMID:26818779, PMID:28492532

  • This annotation was curated on 2020-01-07 06:57:29.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600163 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10053006, PMID:10094188, PMID:10213050, PMID:10602123, PMID:10777366, PMID:10861678, PMID:11424131, PMID:11746040, PMID:12707965, PMID:14613973, PMID:15241680, PMID:15915095, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19215249, PMID:19449410, PMID:1956068, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24728327, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26740388, PMID:28492532, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8723106, PMID:8841188, PMID:8845844, PMID:9042914, PMID:9107244, PMID:9279753, PMID:9279764, PMID:9450868, PMID:9525367, PMID:9580776, PMID:9585583, PMID:9600744, PMID:9677066, PMID:9843059, PMID:9950359

  • This annotation was curated on 2020-01-07 06:59:48.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600150 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:11030304, PMID:11186939, PMID:11186940, PMID:15517832, PMID:16766665, PMID:16841094, PMID:18266238, PMID:20624921, PMID:21324899, PMID:21739570, PMID:22045636, PMID:25614871, PMID:25691418, PMID:25741868, PMID:28492532, PMID:7649548, PMID:7913883, PMID:8078586, PMID:8673103

  • This annotation was curated on 2020-01-07 06:59:45.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:13531499 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10053006, PMID:10213050, PMID:10602123, PMID:10777366, PMID:12707965, PMID:15241680, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19449410, PMID:1956068, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24864036, PMID:25356217, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26740388, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8845844, PMID:9450868, PMID:9580776, PMID:9677066, PMID:9950359

  • This annotation was curated on 2020-01-07 06:59:01.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600153 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10587515, PMID:7649548, PMID:7758520, PMID:8599370

  • This annotation was curated on 2020-01-07 06:59:45.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600175 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:16912704, PMID:17895900

  • This annotation was curated on 2020-01-07 06:59:49.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600155 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10073901, PMID:10471491, PMID:11529856, PMID:12833394, PMID:15772091, PMID:16841094, PMID:18642369, PMID:25157968, PMID:25741868, PMID:26619011, PMID:7773297, PMID:8858131, PMID:9677066

  • This annotation was curated on 2020-01-07 06:59:47.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600161 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10053006, PMID:10213050, PMID:10360392, PMID:10361991, PMID:10395236, PMID:10602123, PMID:10777366, PMID:11055896, PMID:11754059, PMID:12707965, PMID:15241680, PMID:16501574, PMID:17033969, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:19098178, PMID:19449410, PMID:1956068, PMID:22045636, PMID:22604720, PMID:23149434, PMID:23165795, PMID:23378035, PMID:23740942, PMID:24864036, PMID:25356217, PMID:25614871, PMID:25741868, PMID:25931420, PMID:26028288, PMID:26380986, PMID:26740388, PMID:28492532, PMID:4078868, PMID:7670477, PMID:7847369, PMID:8589686, PMID:8845844, PMID:9450868, PMID:9452043, PMID:9580776, PMID:9677066, PMID:9950359

  • This annotation was curated on 2020-01-07 06:59:47.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600160 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10360392, PMID:10360393, PMID:11055896, PMID:23165795, PMID:25614871, PMID:28492532, PMID:4697848, PMID:7670477, PMID:8589686, PMID:9450868, PMID:9452043, PMID:9672519, PMID:9842995

  • This annotation was curated on 2020-01-07 06:59:47.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3

  • This annotation was curated on 2020-01-08 19:57:08.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600177 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:16912704, PMID:25741868

  • This annotation was curated on 2020-01-07 06:59:49.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600151 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:21739570, PMID:22045636, PMID:25614871, PMID:25691418, PMID:28492532, PMID:8078586, PMID:8723101

  • This annotation was curated on 2020-01-07 06:59:45.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:13490066 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 07:00:37.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:13705520 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-01-07 07:00:43.0 by RGD . For more information contact us

    An association has been curated linking FGFR3 and achondroplasia 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:8600162 (Homo sapiens)
  • 11 RGD objects have been annotated to achondroplasia  (DOID:4480)
  • 29 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Achondroplasia
  • Original References(s): PMID:10471491, PMID:11038465, PMID:11879084, PMID:15772091, PMID:17384684, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:8589699

  • This annotation was curated on 2020-01-07 06:57:51.0 by RGD . For more information contact us

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