Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SMAD4 and Arteriovenous malformation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Gallione CJ, etal., J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.
  • 4 additional annotations were made from Gallione CJ, etal., J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.
  • 51 CRRD objects have been annotated to Arteriovenous malformation  (HP:0100026)
  • 57 papers in CRRD have been used to annotate SMAD4
  • Curation Notes: associated with Telangiectasia, Hereditary Hemorrhagic;DNA:missense,frameshift, nonsense mutations:exons:

  • This annotation was curated on 2018-01-05 12:14:37.0 by CRRD . For more information contact us

    Go Back to source page   Continue to Ontology report



    NHLBI Logo

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