title: MalaCards: an integrated compendium for diseases and their annotation.
abstract: Comprehensive disease classification, integration and annotation are crucial for biomedical discovery. At present, disease compilation is incomplete, heterogeneous and often lacking systematic inquiry mechanisms. We introduce MalaCards, an integrated database of human maladies and their annotations, modeled on the architecture and strategy of the GeneCards database of human genes. MalaCards mines and merges 44 data sources to generate a computerized card for each of 16 919 human diseases. Each MalaCard contains disease-specific prioritized annotations, as well as inter-disease connections, empowered by the GeneCards relational database, its searches and GeneDecks set analyses. First, we generate a disease list from 15 ranked sources, using disease-name unification heuristics. Next, we use four schemes to populate MalaCards sections: (i) directly interrogating disease resources, to establish integrated disease names, synonyms, summaries, drugs/therapeutics, clinical features, genetic tests and anatomical context; (ii) searching GeneCards for related publications, and for associated genes with corresponding relevance scores; (iii) analyzing disease-associated gene sets in GeneDecks to yield affiliated pathways, phenotypes, compounds and GO terms, sorted by a composite relevance score and presented with GeneCards links; and (iv) searching within MalaCards itself, e.g. for additional related diseases and anatomical context. The latter forms the basis for the construction of a disease network, based on shared MalaCards annotations, embodying associations based on etiology, clinical features and clinical conditions. This broadly disposed network has a power-law degree distribution, suggesting that this might be an inherent property of such networks. Work in progress includes hierarchical malady classification, ontological mapping and disease set analyses, striving to make MalaCards an even more effective tool for biomedical research. Database URL: http://www.malacards.org/
authors.affiliation: Department of Molecular Genetics, Weizmann Institute of Science, 234 Hertzel St. Rehovot, 76100, Israel. noa.rappaport@weizmann.ac.il
authors.forename: Noa
authors.initials: N
authors.lastname: Rappaport
authors.forename: Noam
authors.initials: N
authors.lastname: Nativ
authors.forename: Gil
authors.initials: G
authors.lastname: Stelzer
authors.forename: Michal
authors.initials: M
authors.lastname: Twik
authors.forename: Yaron
authors.initials: Y
authors.lastname: Guan-Golan
authors.forename: Tsippi Iny
authors.initials: TI
authors.lastname: Stein
authors.forename: Iris
authors.initials: I
authors.lastname: Bahir
authors.forename: Frida
authors.initials: F
authors.lastname: Belinky
authors.forename: C Paul
authors.initials: CP
authors.lastname: Morrey
authors.forename: Marilyn
authors.initials: M
authors.lastname: Safran
authors.forename: Doron
authors.initials: D
authors.lastname: Lancet
mesh_terms: D057225:Data Mining; D030541:Databases, Genetic; D004194:Disease / Q000235:genetics*; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation