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RGD HPO Phenotype Annotation Pipeline

Citation: RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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The RGD human phenotype annotation pipeline imports associations between the Human Phenotype Ontology (HPO) and human genes. The file genes_to_phenotype.txt is downloaded from the Computational Biology Group at the Institute for Medical Genetics and Human Genetics at Charité-Universitätsmedizin Berlin ( Genes in the file are matched to RGD records via the shared NCBI/"Entrez" Gene ID and annotations are made using the IAGP or "Inferred from Association of Genotype to Phenotype", evidence code based on the genetic nature of the original diseases/phenotypes. Additionally, the association of the gene and phenotype relationship to a specific disease is specified through the corresponding OMIM and Orphanet IDs. As of April 2017, the downloaded file contains disease associations from both OMIM and Orphanet (ORPHA, These IDs are loaded into the NOTES field for the annotations and link back to the corresponding databases.
CRRD Object Information
CRRD ID: 8699517
Created: 2014-08-13
Species: All species
Last Modified: 2014-08-13
Status: ACTIVE


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