GO score The GO score of a RefSeq sequence is the average of the scores associated to each of the GO terms with which is annotated. High values indicate a possible relation to the disease under consideration. GO terms GO stands for Gene Ontology. GO terms compose a controlled vocabulary for the description of protein functionality. Golden Path The Human Genome Project Working Draft which is generated and distributed by the UCSC. Version 1.0 of Genes2Diseases was run (in June 2001) on the December 2000 version of the golden path. EntrezGene A database of sequence and descriptive information about genes. MEDLINE A database of indexed journal citations and abstracts. You can query it, for example, by accessing the NCBI's PubMed server. MeSH terms Each MEDLINE entry is indexed with a set of terms (MeSH terms compiled at the NLM) grouped in eight main categories. MeSH stands for Medical Subject Headings. If you want to know more, visit the MeSH page at the National Library of Medicine. MeSH-C terms MeSH terms of the 'Diseases' category. MeSH-D terms MeSH terms of the 'Chemicals and Drugs' category. OMIM Online Mendelian Inheritance in Man is a database of human genes and genetic disorders. RefSeq The Reference Sequence project provides annotated human genes. We have used their annotations with GO terms and papers in MEDLINE, as a way of linking protein functionality to the MeSH terms associated to the corresponding papers. R-score (or Relative score) Relative score of a sequence according to the distribution of GO scores of the RefSeq set used to characterize the region. It is ranking -1 divided by the total number of sequences in the RefSeq set. Values close to zero indicate a possible relation of the sequence to the disease under consideration. STRING score As many protein-protein interactions in the STRING database are inferred, each one is associated a score that resumes the reliability of the interaction according to the available pieces of evidence (coexpression, data mining, neigbourhood, etc.) The STRING score is positive and less than 1000. Here we use the STRING score divided by 1000.