The DisGeNET knowledge platform for disease genomics: 2019 update

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

(2018) Angli Xue et al.   Nature Communications

Human Disease Ontology 2018 update: classification, content and workflow expansion

(2018) Lynn M Schriml et al.   NUCLEIC ACIDS RESEARCH

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

Mouse Genome Database (MGD) 2019

(2018) Carol J Bult et al.   NUCLEIC ACIDS RESEARCH

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

WikiPathways: a multifaceted pathway database bridging metabolomics to other omics research

(2017) Denise N Slenter et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Text mining and expert curation to develop a database on psychiatric diseases and their genes

(2017) Alba Gutiérrez-Sacristán et al.   Database-The Journal of Biological Databases and Curation

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

(2016) Daria Wojtal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SETH detects and normalizes genetic variants in text

(2016) Philippe Thomas 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

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

(2016) Janet Piñero et al.   NUCLEIC ACIDS RESEARCH

Publishing DisGeNET as nanopublications

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

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

(2015) Mulin Jun Li et al.   NUCLEIC ACIDS RESEARCH

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

(2015) J. Pinero et al.   Database-The Journal of Biological Databases and Curation

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

(2014) Mary Shimoyama et al.   NUCLEIC ACIDS RESEARCH

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

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

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

Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse

(2011) Jonathon M. Tinsley et al.   PLoS One

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

(2010) Anna Bauer-Mehren et al.   BIOINFORMATICS

Carriers of the TCF7L2 rs7903146 TT genotype have elevated levels of plasma glucose, serum proinsulin and plasma gastric inhibitory polypeptide (GIP) during a meal test

(2010) A. P. Gjesing et al.   DIABETOLOGIA

TCF7L2 Variant rs7903146 Affects the Risk of Type 2 Diabetes by Modulating Incretin Action

(2009) D. T. Villareal et al.   DIABETES

The T allele of rs7903146 TCF7L2 is associated with impaired insulinotropic action of incretin hormones, reduced 24 h profiles of plasma insulin and glucagon, and increased hepatic glucose production in young healthy men

(2009) K. Pilgaard et al.   DIABETOLOGIA