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The next set of tables describes the associations between a gene, a body part, and diseases or phenotypes according to the literature. These cross tabulations are the source for generating the gene-phenotype links in the tables above. Again one table for each annotation level: organs, systems, and germ layers. These are compressed comma-delimited files.
A phenotype that is associated with a gene and a body part will appear under the columns HPOTermName and HPOTermID. HPO, the Human Phenotype Ontology, is a vocabulary of human phenotype abnormalities. Each phenotype is identified by a code, and this code is listed alongside its human-readable term. If a disease is further associated with this triplet of gene-organ-phenotype, according to OMIM, the Online Mendelian Inheritance in Man or ORPHANET, the catalog of rare diseases, the disease's code and convention will appear under the columns OMIMID and diseaseName. A disease may however be directly associated with a gene-organ pair, in which case no phenotype is found to describe it. In such case the disease identifier begins with umls, a prefix that signifies a DisGeNET origin. The top rows of the table for organ annotations is shown in the screenshot below
Gene-Body Part associations
Gene-Disease-Phenotype-Body Part associations