Each of the 447 gene files included in the Guide is the result of an exhaustive review of the literature and various databases, in order to compile all the information known to date regarding the structure, function and role played by the gene in all the pathologies and cellular processes in which the products of its expression are involved. In this way, each Gene file consists of the following sections:

  1. Alternative Names: All the names, in addition to the official name, by which this gene is known.
  2. Alternative Symbols: Other symbols which appear in the literature to refer to this gene.
  3. Codes: OMIM and PharmGKB: The OMIM and PharmGKB codes enable immediate access to the information in these databases concerning this gene and related polymorphisms, pathologies and drug metabolism.
  4. Gene: Locus, Size, Regulatory sequence, Structure: Basic data that characterize the gene as regards its location in the human genome, its size and structure.
  5. RNA: Size, Transcripts/Variants, Expression: This section captures the verified data concerning the known transcripts of the gene and the cell types, tissues and organs in which it is expressed.
  6. Protein: Size, Family, Category, Motifs/Domains: This field reveals the characteristics of the gene expression product.
  7. Function: Here we capture all the information known to date concerning the functions in which the gene expression products are involved.
  8. Related Diseases: This section consists of a list of the pathologies that have been experimentally associated, to a greater or lesser degree, with the expression products of the gene or with molecular variants of the same.
  9. Related Drugs: Drugs that, in scientific publications, have been associated to a greater or lesser degree with the gene or with the expression products of the same.
  10. Animal Models: Experimental animal models in which variations of the gene have been assayed.
  11. Allelic Variants: Total Variants, Allele nomenclature: Polymorphic variants of the gene.
  12. Selected SNPs: Disease-Associated Mutations, Selected SNPs with clinical relevance: Polymorphisms described for the gene in humans, principally those studied in conjunction with pathologies or drugs.
  13. Evolution and Taxonomy: A compilation of the evolutionary studies associated with the gene, and also those that establish inter-species comparisons.
  14. Genomics and Pharmacogenomics: Pharmacogenetic and pharmacogenomic evidence involving polymorphic variants of the gene with diseases and drugs.
  15. Drug-Gene Interactions: Molecular interactions of different drugs on the expression of the gene.
  16. Gene-Disease-Chemical Relationships: Molecular interactions between expression products of the gene and chemical substances in association with different pathologies.
  17. References: The most significant bibliographic sources consulted and quoted in the preparation of this monograph.
  18. Authors: The persons responsible for the compilation of data and the preparation of the gene monograph.