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Human Disease Information (HDI) Databases Development

Motivation: The range of the Human Disease Insight (HDI) will not be limited to researchers or doctors but provide basic information to common people and creating recognition included in this and thereby lowering the probability of suffering credited to ignorance. The integrated bioinformatics tools within the database will enable research workers to perform assessment among the disease specific genes, and perform proteins analysis, search for biomarkers and recognition of potential vaccine candidates. Eventually the tools would be of great help to analyze factual statements about the diseases.

Results: The HDI is an understanding based tool for human disease information to both scientists as well as public. Here, our quest is to provide a comprehensive human being disease database comprising the majority of the useful information with comprehensive cross-referencing. HDI is an understanding management system that serves as a central hub to access information about real human diseases, drugs and genes involved with various diseases. In addition, the HDI includes well categorised bioinformatics tool with information. HDI provides two types of search features, and has provision for downloading, uploading and looking disease/gene/medicine related information. Logistics suitable for HDI allow regular updation of the data source.

Availability and execution: The HDI is freely accessible at http://humandiseaseinsight. com, with user-friendly web interface, which is highly beneficial to the physicians, research workers, patient and general public.

Keywords: Databases, Knowledge Management System, Relational Repository Management System, Three-Tier Structures, Web-Server, Mysql, Disease, Gene, Drug

1. Introduction

Scientists have noted diseases regarding a particular category in various online databases. Due to advancement in science and technology, especially genomics and information technology, we have entered in an enjoyable era of modern biology. The major problem, that medical technology community currently facing, is the integration of great and rapidly growing quantities of information on various diseases into a all natural understanding. Recent progress of disease genetics and genome-related medication has been appreciable, with extensive data being generated. The remarkable strategy of the Individuals Genome Project in recognition of the majority of the individual genome, transcriptome and proteome, and making them publicly available through online databases, aided in in-depth inspection of disease genetics.

At present directories made up of information about real human diseases are targeted predominantly on a particular category: all known Mandelian disorders (Hamosh, et al. , 2005), infectious disease repository, uncommon children diseases (http://www. madisonsfoundation. org/index. php), hereditary ocular disease (https://disorders. eye. az. edu), dermatological diseases (http://www. aocd. org/) and gastrointestinal diseases (http://www. gastro. net. au/). Such tries enormously uplift the work related to prevention, analysis and treatment of diseases, producing new approaches to alleviate the consequences of life threatening diseases. However, till day no disease database is populated with information towards bioinformatics tools and information designed for common person. Integration of most individuals diseases from different categories at one common place has become an important issue in the Bioinformatics.

Over a period, amendments in diagnostic analysis and treatment emerges. In order to facilitate the city with the latest understanding of individual diseases and discovery of gene involved in diseases, we have created a Knowledge Management System (KMS), that includes information of varied categories of human diseases, drugs used to get rid of the diseases, genes involved in causing the diseases and bioinformatics tools to investigate the involved gene. HDI is thus a thorough database of human diseases classified in a variety of categories and cross linked to other databases to retrieve an in depth knowledge of genes, drugs and tools. HDI has broader electricity in that it renders clinical information for health professionals, hereditary information and tools classification for experts and general description of disease for general public.


Human Disease Information (HDI) introduces a knowledgebase of diseases, genes, drugs and bioinformatics tools list, with a user-friendly interface. It is designed to assemble, store, organize and display information about human diseases, genes associated with individuals diseases and drugs used to get rid of diseases together with classified list of bioinformatics tools for sequence analysis and composition modeling of genes/proteins. HDI presently includes information about 625 real human diseases, 320 drugs, 1440 gene and categorized set of bioinformatics tools (Table 1). Diseases have been classified into 12 categories, each category has been filled with disease information that includes - synonym/s, pathogen, standard information of disease, gene, medical features, pathways, investigations, prevention, treatment, risk factor, prevalence and recommendations (Kanehisa and Goto, 2000), (http://www. nlm. nih. gov/medlineplus/), (http://www. medscape. com/). Drugs have been grouped into 26 extensive categories. Task of the genes to human diseases are enlisted with links to NCBI (Maglott, et al. , 2007) and UniProt (Wu, et al. , 2006) for detailed information. Bioinformatics tools are broadly categorized into 3 main categories, each category is then classified into further sub categories. Information gathered for disease, drugs and genes are interconnected so that through disease option, multiple genes and/or multiple drugs involved with a particular disease can be retrieved, through drugs option range of diseases in which a particular drug can be utilized is retrieved and through gene option range of disease/s in which a particular gene is involved can be shown. These information can be utilized freely. The information is curated and modified regularly.

3. Database Structure

HDI, is an understanding established data ware house, that provides a and curated repository of human diseases, drugs and reported genes involved in the pathogenesis of the condition along with the links to bioinformatics tools. Classification of bioinformatics tools with explanation and links with their respective web pages assists in undertaking research research of gene/protein series/s. HDI endows user friendly web interface to permit user to get, download and upload information through interactive web varieties. The schematic representation of the logistics found in HDI is shown in Figure1.

3. 1. Software design and implementation

The data ware house HDI is developed and carried out on a three-tier architecture-user/customer, web-interface and relational database management system (RDBMS) backend. End user/client can be considered a physician, researcher, scholar and/or public. The web software is made up of web pages and web varieties, designed in HTML5, CSS, PHP, javascript, ajax, jquery and MySql concerns, to provide common gateway software. With the backend we've created data marts of various information regarding human diseases. This developed data source is dynamically designed, web pages and web varieties are interlinked with the info ware house created at the backend, for querying the data source as instructed by the end user through button clicks and drop down selections. The data ware house created at the backend is a relational databases, maintained with MySql developed on Home windows operating-system. For web services, Apache HTTP web server was used. Data mining was performed to retrieve information for human being diseases, genes, medicine and tools through various web resources and wording catalogs, obtained data was then subjected to curation and uploaded to the repository.

Framework for HDI mostly consists of dining tables for disease, drugs and genes information including bioinformatics tools. Diseases are categorized broadly into 12 categories. Each category is filled with amount of diseases. Each access in HDI provides a thorough information about human disease characterized by synonyms, general explanation, pathogen, gene involved, medical features, pathways, investigations, protection, treatment, medicine, prevalence, risk factors and personal references. The drugs are categorized into 26 extensive categories, each category is populated with number of drugs using their explanation and links to Medicine databank for in depth information. Genes involved in individual diseases are collected and their links to NCBI and UniProt are given in drop down menu to get intricate knowledge. For capability of users, major bioinformatics tools with explanation and links are grouped in an effort to guide them for performing specified research of the gene/necessary protein. HDI can be publicly reached from any web browser at http://humandiseaseinsight. com.

3. 2. Data curation

The HDI is being enhanced through ongoing efforts to improve diseases knowledge and interlinking of disease, medication and gene dining tables to obtain maximum information. The info made available for the user is achieved after comprehensive data mining process. Knowledge thus obtained is monitored in a relational database through mix linking to fetch the data stored in the data ware house of HDI and through cross linking of the web resources (NCBI, UniProt and DrugBank) Genes which are related to human being diseases are contained in the repository, and are interlinked with the condition tables in order to obtain the name/s of disease/s governed by a particular gene.

3. 3. Knowledgebase access

HDI data can be retrieved successfully through drop down selections and search functions provided on each site of the web site. User can gain access to alphabetically purchased diseases, drugs, genes and tools through drop down menu. Diseases from different categories can be selected through drop down menu. Simply clicking the disease shows the stored information about the disease. Likewise, drugs can be selected from different categories in the drop down menu, simply clicking any drug will give its description, disease/s that may be cured and associated with the drug loan company for depth. For capability of users, two different search containers are given. One search pack present at the home web page can search the complete data mart for diseases in the info ware house of the HDI. To enhance the usability of the search box, codes were written to provide auto-complete search suggestion to an individual that could save searching time and do spelling modification. Another search present on each site is Yahoo search package, which searches for the term came into, in the databases as well as on the net. Our website has provision for downloading and uploading shared articles, e-books and articles related to disease, medication and genes for new users. All uploads by an individual will be well-timed kept up to date in the databases. For sign up, signup option is provided, listed user can login for downloading and uploading related information. Medicinal and research oriented reports will be emailed to the email address provided by an individual. Feedback option is directed at receive reviews from an individual, to enhance the database. Advert option is provided for the advertisement companies to show their advertising campaign on the provided space of the internet site after filling the proper execution. Further the databases is linked to communal networking sites for gathering popularity.

4. Repository availability

The database can be accessed without any charges to retrieve disease, medication, gene and tool related information. Free sign up is required for downloading and uploading the related content.

5. Salient features of the HDI

HDI is a sturdy knowledge management system, that handles data mined knowledge, through cross-linking of the data marts and web resources. This user-friendly, data-intensive repository supply the user a platform to retrieve comprehensive disease related information and perform gene/proteins sequence based research using direct links of the grouped bioinformatics tools. HDI allow users to upload content to increase the data platform.

6. Future directions

HDI provide perfect information necessary for medical diagnosis and treatment of various human diseases. Presently, there are 625 diseases, 1440 genes, 320 drugs and 39 tools. The content of information in specified fields is rapidly expanding, our goal is to acquire a complete dataset of individuals diseases, genes, drugs and tools also to generate an instrument that can identify gene triggering human being disease. We also try to combine various bioinformatics tools to annotate man disease specific genes. In future, main concern is to keep the dataset current with growing quantity diseases, genes, drugs and bioinformatics tools.

7. Conclusions

HDI offers a top platform that deals with all areas of diseases including history, symptom, cause, epidemiology, treatment, precaution, etc. Furthermore, all diseases have been linked with the pharmacology, genomics, proteomics and many other relevant directories. HDI can not only help in better understanding of the diseases and offer main data for research but also enable to find the interactions between various diseases by checking them by various biotools provided here in our database. The information provided shall lay down the foundation for even more innovations in disease medical diagnosis and also assist in design of novel strategies for diagnosing and dealing with diseases. We consider that, with enrichment of the databases, user will get information about all of the real human diseases.

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