Evidence map›Paper›PMID 25877637›Full record

ArticleDatabase : the journal of biological databases and curation2015

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes.

Janet Piñero, Núria Queralt-Rosinach, Àlex Bravo, Jordi Deu-Pons, Anna Bauer-Mehren, Martin Baron, Ferran Sanz, Laura I Furlong

Abstract readDataset
In one paragraph

Article in Database : the journal of biological databases and curation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 559 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
559citing papers in PubMed, 5 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

559 citing papers in PubMed, 5 syntheses or guidelines pooled it.

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499 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Janet PiñeroResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Núria Queralt-RosinachResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Àlex BravoResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Jordi Deu-PonsResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Anna Bauer-MehrenResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Martin BaronResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Ferran SanzResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany.
Laura I FurlongResearch Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Dr Aiguader 88, E-08003 Barcelona, Spain, Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany and Scientific & Business Information Services, Roche Diagnostics GmbH, Nonnenwald 2, 82377 Penzberg, Germany lfurlong@imim.es.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DisGeNET is a comprehensive discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET contains over 380,000 associations between >16,000 genes and 13,000 diseases, which makes it one of the largest repositories currently available of its kind. DisGeNET integrates expert-curated databases with text-mined data, covers information on Mendelian and complex diseases, and includes data from animal disease models. It features a score based on the supporting evidence to prioritize gene-disease associations. It is an open access resource available through a web interface, a Cytoscape plugin and as a Semantic Web resource. The web interface supports user-friendly data exploration and navigation. DisGeNET data can also be analysed via the DisGeNET Cytoscape plugin, and enriched with the annotations of other plugins of this popular network analysis software suite. Finally, the information contained in DisGeNET can be expanded and complemented using Semantic Web technologies and linked to a variety of resources already present in the Linked Data cloud. Hence, DisGeNET offers one of the most comprehensive collections of human gene-disease associations and a valuable set of tools for investigating the molecular mechanisms underlying diseases of genetic origin, designed to fulfill the needs of different user profiles, including bioinformaticians, biologists and health-care practitioners. Database URL: http://www.disgenet.org/

Indexed as

Databases, GeneticGene Regulatory NetworksGenome, HumanInternetUser-Computer InterfaceAnimalsCloud ComputingDisease Models, AnimalGenetic Diseases, InbornHumans

Identifiers

PMID25877637
PMCPMC4397996

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.