MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search.
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DOI：
10.1093/nar/gkw1012
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发表时间：
2017-01-04
影响因子：
14.9
通讯作者：
Lancet D
中科院分区：
文献类型：
--
作者：
Rappaport N;Twik M;Plaschkes I;Nudel R;Iny Stein T;Levitt J;Gershoni M;Morrey CP;Safran M;Lancet D
MalaCards人类疾病数据库（http://www.malacards.org/）是从68个数据源中挖掘的带注释疾病的综合纲要。MalaCards为6个全球类别的约20,000个疾病条目中的每个条目提供了一个web卡片。它在15个章节中描绘了广泛的注释主题，包括摘要、症状、解剖背景、药物、基因测试、变异和出版物。别名和分类部分反映了跨经常冲突的来源进行疾病名称集成的算法，提供了有效的注释整合。中心特征是一个平衡的基因部分，得分反映疾病-基因关联的强度。这伴随着其他基因相关的疾病信息，如途径，小鼠表型和go术语，源于MalaCards与GeneCards数据库套件的关联。MalaCards能够将来自互补来源的信息相互链接，加上其复杂的搜索功能、关系数据库基础设施和方便的数据转储，使其能够处理其丰富的疾病注释景观，并促进系统分析和基因组序列解释。MalaCards采用“扁平”疾病卡方法，但每张卡都映射到流行的分层本体（例如国际疾病分类、人类表型本体和统一医学语言系统），并且还包含有关疾病之间多层次关系的信息，从而为疾病表示和审查提供了最佳工具。
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.
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影响因子：
3.9
作者：
Famiglietti, Maria Livia;Estreicher, Anne;Gos, Arnaud;Bolleman, Jerven;Gehant, Sebastien;Breuza, Lionel;Bridge, Alan;Poux, Sylvain;Redaschi, Nicole;Bougueleret, Lydie;Xenarios, Ioannis
通讯作者：
Xenarios, Ioannis
DOI：
10.1038/nrc1299
发表时间：
2004-03
期刊：
Nature reviews. Cancer
影响因子：
--
作者：
通讯作者：
--
影响因子：
14.9
作者：
Köhler S;Doelken SC;Mungall CJ;Bauer S;Firth HV;Bailleul-Forestier I;Black GC;Brown DL;Brudno M;Campbell J;FitzPatrick DR;Eppig JT;Jackson AP;Freson K;Girdea M;Helbig I;Hurst JA;Jähn J;Jackson LG;Kelly AM;Ledbetter DH;Mansour S;Martin CL;Moss C;Mumford A;Ouwehand WH;Park SM;Riggs ER;Scott RH;Sisodiya S;Van Vooren S;Wapner RJ;Wilkie AO;Wright CF;Vulto-van Silfhout AT;de Leeuw N;de Vries BB;Washingthon NL;Smith CL;Westerfield M;Schofield P;Ruef BJ;Gkoutos GV;Haendel M;Smedley D;Lewis SE;Robinson PN
通讯作者：
Robinson PN
影响因子：
4.3
作者：
Hidalgo CA;Blumm N;Barabási AL;Christakis NA
通讯作者：
Christakis NA
影响因子：
4.8
作者：
Pletscher-Frankild, Sune;Palleja, Albert;Jensen, Lars Juhl
通讯作者：
Jensen, Lars Juhl