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Pathways

GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Guillet B, etal., Hum Mutat. 2006 Jul;27(7):676-85.
  • The annotation has been inferred from sequence orthology with F8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Guillet B, etal., Hum Mutat. 2006 Jul;27(7):676-85.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8


  • An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Nielsen LN, etal., J Thromb Haemost. 2014 Aug;12(8):1274-82. doi: 10.1111/jth.12635.
  • 25 additional annotations were made from Nielsen LN, etal., J Thromb Haemost. 2014 Aug;12(8):1274-82. doi: 10.1111/jth.12635.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8


  • An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from VandenDriessche T, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10379-84.
  • The annotation has been inferred from sequence orthology with F8 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from VandenDriessche T, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10379-84.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Qualifier: treatment


  • An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8.
  • The annotation has been inferred from sequence orthology with F8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Curation Notes: DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple


  • An association has been curated linking F8 and factor VIII deficiency 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 F8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8


  • An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x.
  • 12 additional annotations were made from Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Curation Notes: DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)


  • An association has been curated linking F8 and factor VIII deficiency 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 F8 (Homo sapiens) [(EXP) inferred from experiment]
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11918545 PMID:16051741


  • An association has been curated linking F8 and factor VIII deficiency in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Shi Q, etal., Blood Adv. 2020 Jan 14;4(1):55-65. doi: 10.1182/bloodadvances.2019000944.
  • 28 additional annotations were made from Shi Q, etal., Blood Adv. 2020 Jan 14;4(1):55-65. doi: 10.1182/bloodadvances.2019000944.
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Qualifier: treatment


  • An association has been curated linking F8 and factor VIII deficiency 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 F8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Curation Notes: ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital
  • Original References(s): PMID:10215414 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10609755 PMID:10896236 PMID:10910910 PMID:10910913 PMID:11102988 PMID:11110718 PMID:11179760 PMID:11189482 PMID:11251334 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11554935 PMID:11713379 PMID:11748850 PMID:11843836 PMID:11857744 PMID:11858487 PMID:12139751 PMID:12204009 PMID:12325022 PMID:12351418 PMID:12406074 PMID:12871415 PMID:12884004 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1412186 PMID:1523102 PMID:15471879 PMID:15569173 PMID:1559571 PMID:15625837 PMID:15670040 PMID:1569180 PMID:1569181 PMID:15710596 PMID:15735794 PMID:15741993 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:1639429 PMID:1643024 PMID:16601827 PMID:1671991 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17209060 PMID:17222201 PMID:17445092 PMID:17498081 PMID:17550859 PMID:17610549 PMID:17610560 PMID:18034822 PMID:18184865 PMID:18217193 PMID:18371163 PMID:18387975 PMID:18403393 PMID:1840568 PMID:18479430 PMID:1851341 PMID:18565236 PMID:18600086 PMID:18691168 PMID:1908096 PMID:1908817 PMID:1923751 PMID:1924291 PMID:19369668 PMID:19377476 PMID:19448530 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19548904 PMID:1969840 PMID:19719548 PMID:19719828 PMID:1973901 PMID:19740093 PMID:1979502 PMID:20028422 PMID:20102490 PMID:20108389 PMID:20193250 PMID:20300295 PMID:20301578 PMID:20331753 PMID:20331761 PMID:20431853 PMID:20533009 PMID:20536985 PMID:20800587 PMID:20860608 PMID:2104741 PMID:2104766 PMID:2105106 PMID:2105906 PMID:2106480 PMID:21070499 PMID:2107542 PMID:2109644 PMID:2110545 PMID:2121026 PMID:2121641 PMID:21217077 PMID:2125022 PMID:21371196 PMID:21462120 PMID:2159433 PMID:21645180 PMID:21645224 PMID:21645226 PMID:21689372 PMID:21751985 PMID:21838755 PMID:21883705 PMID:21910785 PMID:22103590 PMID:22958177 PMID:23534532 PMID:23625609 PMID:23711237 PMID:23711294 PMID:23809411 PMID:23812942 PMID:23913812 PMID:23926300 PMID:23961341 PMID:23963097 PMID:24033266 PMID:24086941 PMID:24108539 PMID:24118398 PMID:24134483 PMID:2473810 PMID:24845853 PMID:2493803 PMID:2495245 PMID:24953131 PMID:2498882 PMID:2506948 PMID:2510835 PMID:25326637 PMID:25628142 PMID:2563431 PMID:2567219 PMID:25708597 PMID:25741868 PMID:25741908 PMID:25824987 PMID:25854144 PMID:25948085 PMID:25955082 PMID:26308136 PMID:26383047 PMID:26879396 PMID:26897466 PMID:27292088 PMID:27868395 PMID:27943580 PMID:28252515 PMID:2831458 PMID:2833855 PMID:2835307 PMID:28492532 PMID:2861360 PMID:2887317 PMID:2901224 PMID:2907841 PMID:29296726 PMID:2986011 PMID:2987704 PMID:2993888 PMID:3035554 PMID:30534853 PMID:30913330 PMID:3097553 PMID:31064749 PMID:3122181 PMID:3131627 PMID:3137981 PMID:32166871 PMID:32581362 PMID:34355501 PMID:35014236 PMID:6253938 PMID:6438527 PMID:7579394 PMID:7662970 PMID:7728145 PMID:7794769 PMID:7959679 PMID:7984443 PMID:8011517 PMID:8052958 PMID:8054459 PMID:8069313 PMID:8281136 PMID:8307558 PMID:8322269 PMID:8449505 PMID:8485051 PMID:8490618 PMID:8497853 PMID:8547094 PMID:8576960 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9184393 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9594277 PMID:9792405 PMID:9829908 PMID:9886318


  • An association has been curated linking F8 and factor VIII deficiency 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 F8 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to factor VIII deficiency  (DOID:12134)
  • 28 papers in RGD have been used to annotate F8
  • Curation Notes: OMIM:306700


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