MalaCards
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The MalaCards human disease database (http://www. malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources. MalaCards has a web card for each of ∼20 000 disease entries, in six global categories. It portrays a broad array of annotation topics in 15 sections, including Summaries, Symptoms, Anatomical Context, Drugs, Genetic Tests, Variations and Publications. The Aliases and Classifications section reflects an algorithm for disease name integration across often-conflicting sources, providing effective annotation consolidation. A central feature is a balanced Genes section, with scores reflecting the strength of disease-gene associations. This is accompanied by other gene-related disease information such as pathways, mouse phenotypes and GO-terms, stemming from MalaCards’ affiliation with the GeneCards Suite of databases. MalaCards’ capacity to inter-link information from complementary sources, along with its elaborate search function, relational database infrastructure and convenient data dumps, allows it to tackle its rich disease annotation landscape, and facilitates systems analyses and genome sequence interpretation. MalaCards adopts a ‘flat’ disease-card approach, but each card is mapped to popular hierarchical ontologies (e.g. International Classification of Diseases, Human Phenotype Ontology and Unified Medical Language System) and also contains information about multi-level relations among diseases, thereby providing an optimal tool for disease representation and scrutiny.
MalaCards人类疾病数据库（MalaCards human disease database，网址：http://www.malacards.org/）是一套整合自68个数据源的注释疾病集成编目。该数据库为约20000个疾病条目各配备一张网页卡片，涵盖六大全局类别，并在15个板块中呈现丰富的注释主题，包括摘要、症状、解剖背景、药物、基因检测、变异与文献等。 “别名与分类”板块采用针对多源冲突疾病名称的整合算法，可实现高效的注释合并。其核心特色为均衡设置的基因板块，板块内的评分可反映疾病-基因关联的强度；依托与GeneCards Suite数据库套件的隶属关系，该数据库还可获取通路、小鼠表型与基因本体（GO）术语等其他基因相关疾病信息。 MalaCards具备跨互补数据源实现信息互联的能力，搭配其精细化搜索功能、关系型数据库架构与便捷的数据转储功能，可高效处理海量的疾病注释场景，为系统分析与基因组序列解读提供有力支持。 MalaCards采用“扁平化”疾病卡片架构，但每张卡片均映射至主流层级本体（如国际疾病分类（International Classification of Diseases）、人类表型本体（Human Phenotype Ontology）与统一医学语言系统（Unified Medical Language System）），同时包含疾病间的多级关联信息，因此成为疾病表征与精细审查的理想工具。
