DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

Characterization of clinical signs in the human interactome

(2016) Monica Chagoyen et al.   BIOINFORMATICS

DTMiner: identification of potential disease targets through biomedical literature mining

(2016) Dong Xu et al.   BIOINFORMATICS

DisGeNET-RDF: harnessing the innovative power of the Semantic Web to explore the genetic basis of diseases

(2016) Núria Queralt-Rosinach et al.   BIOINFORMATICS

CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools

(2016) María Florencia Abascal et al.   COMPUTATIONAL BIOLOGY AND CHEMISTRY

dbAARD & AGP: A computational pipeline for the prediction of genes associated with age related disorders

(2016) Isha Srivastava et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease Associations

(2016) Joseph Mullen et al.   PLoS One

Uncovering disease mechanisms through network biology in the era of Next Generation Sequencing

(2016) Janet Piñero et al.   Scientific Reports

Candidate gene networks and blood biomarkers of methamphetamine-associated psychosis: an integrative RNA-sequencing report

(2016) M S Breen et al.   Translational Psychiatry

Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations

(2016) Amit Kishore et al.   Frontiers in Immunology

Publishing DisGeNET as nanopublications

(2016) Núria Queralt-Rosinach et al.   Semantic Web

Causal Mechanistic Regulatory Network for Glioblastoma Deciphered Using Systems Genetics Network Analysis

(2016) Christopher L. Plaisier et al.   Cell Systems

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extraction of relations between genes and diseases from text and large-scale data analysis: implications for translational research

(2015) Àlex Bravo et al.   BMC BIOINFORMATICS

Genetic mutations associated with status epilepticus

(2015) M. Bhatnagar et al.   EPILEPSY & BEHAVIOR

Molecular and clinical diseasome of comorbidities in exacerbated COPD patients

(2015) Rosa Faner et al.   EUROPEAN RESPIRATORY JOURNAL

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

TFmiR: a web server for constructing and analyzing disease-specific transcription factor and miRNA co-regulatory networks

(2015) Mohamed Hamed et al.   NUCLEIC ACIDS RESEARCH

WikiPathways: capturing the full diversity of pathway knowledge

(2015) Martina Kutmon et al.   NUCLEIC ACIDS RESEARCH

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

(2015) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

The Reactome pathway Knowledgebase

(2015) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

PANTHER version 10: expanded protein families and functions, and analysis tools

(2015) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types

(2015) Alex J. Cornish et al.   Genome Medicine

Systematic analysis of gene properties influencing organ system phenotypes in mammalian perturbations

(2014) Ingo Vogt et al.   BIOINFORMATICS

The EBI RDF platform: linked open data for the life sciences

(2014) S. Jupp et al.   BIOINFORMATICS

Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline

(2014) In-Hee Lee et al.   HUMAN MUTATION

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

(2014) Warren A. Kibbe et al.   NUCLEIC ACIDS RESEARCH

Organ system heterogeneity DB: a database for the visualization of phenotypes at the organ system level

(2014) Deepthi Mannil et al.   NUCLEIC ACIDS RESEARCH

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

The Comparative Toxicogenomics Database's 10th year anniversary: update 2015

(2014) Allan Peter Davis et al.   NUCLEIC ACIDS RESEARCH

The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease

(2014) Mary Shimoyama et al.   NUCLEIC ACIDS RESEARCH

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

A Computational Framework to Infer Human Disease-Associated Long Noncoding RNAs

(2014) Ming-Xi Liu et al.   PLoS One

A Knowledge-Driven Approach to Extract Disease-Related Biomarkers from the Literature

(2014) À. Bravo et al.   Biomed Research International

The Semanticscience Integrated Ontology (SIO) for biomedical research and knowledge discovery

(2014) Michel Dumontier et al.   Journal of Biomedical Semantics

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Automatic Filtering and Substantiation of Drug Safety Signals

(2012) Anna Bauer-Mehren et al.   PLoS Computational Biology

DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks

(2010) Anna Bauer-Mehren et al.   BIOINFORMATICS

Extraction of semantic biomedical relations from text using conditional random fields

(2008) Markus Bundschus et al.   BMC BIOINFORMATICS