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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Srinivasan S, etal., Hum Mol Genet. 2003 Mar 1;12(5):473-82.
  • 2 additional annotations were made from Srinivasan S, etal., Hum Mol Genet. 2003 Mar 1;12(5):473-82.
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bossler AD, etal., Hum Mutat. 2006 Jul;27(7):667-75.
  • The annotation has been inferred from sequence orthology with ACVRL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Bossler AD, etal., Hum Mutat. 2006 Jul;27(7):667-75.
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1
  • Curation Notes: DNA:mutations:


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Luo JW, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):308-10.
  • The annotation has been inferred from sequence orthology with ACVRL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Luo JW, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):308-10.
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1
  • Curation Notes: DNA:nonsense mutation:cds:145del(human)


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Assis AM, etal., J Hum Genet. 2007;52(3):237-43. Epub 2007 Jan 12.
  • The annotation has been inferred from sequence orthology with ACVRL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Assis AM, etal., J Hum Genet. 2007;52(3):237-43. Epub 2007 Jan 12.
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1
  • Curation Notes: DNA:deletion, insertion and missense mutations:exons:


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • 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 ACVRL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • 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 ACVRL1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Acvrl1 and Hereditary Hemorrhagic Telangiectasia, Type 2 in Mus musculus.        

  • 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 ACVRL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Hereditary Hemorrhagic Telangiectasia, Type 2  (DOID:9005819)
  • 23 papers in RGD have been used to annotate Acvrl1
  • Curation Notes: ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
  • Original References(s): PMID:10187774 PMID:10694922 PMID:10767348 PMID:10946360 PMID:11170071 PMID:11484689 PMID:11865300 PMID:12079393 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:15993872 PMID:16123970 PMID:16199547 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17425869 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19763152 PMID:19767588 PMID:20056902 PMID:20307669 PMID:20414677 PMID:20501893 PMID:20609011 PMID:21132305 PMID:21158752 PMID:21378382 PMID:21398687 PMID:21488239 PMID:21536610 PMID:21546842 PMID:22028876 PMID:22377182 PMID:22406018 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22977237 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25312062 PMID:25318803 PMID:25326635 PMID:25557927 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:26986070 PMID:27077548 PMID:27081284 PMID:27291782 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27630060 PMID:27869117 PMID:28166811 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29398197 PMID:29449337 PMID:29515340 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30120215 PMID:30244195 PMID:30251589 PMID:30260738 PMID:30303062 PMID:30578383 PMID:30578397 PMID:31019026 PMID:31220907 PMID:31327192 PMID:31400083 PMID:31450639 PMID:31455059 PMID:31511490 PMID:31594285 PMID:31618753 PMID:31630786 PMID:31727138 PMID:31875044 PMID:32165824 PMID:32300199 PMID:32341592 PMID:32503579 PMID:32573726 PMID:32581362 PMID:32899377 PMID:33201366 PMID:33754658 PMID:33919892 PMID:34008892 PMID:34501220 PMID:34872578 PMID:34966542 PMID:35620871 PMID:35628811 PMID:36993588 PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098


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