The DisGeNET database and Knowledge discovery platform are provided to advance the knowledge about human
diseases and their associated genes, and are intended to be used only for research and education.
- Database License
The DisGeNET database is made available under the Open Database License whose full text can be found
at http://opendatacommons.org/licenses/odbl/1.0/. Any rights in individual contents of the database
are licensed under the Database Contents License whose text can be found at
http://opendatacommons.org/licenses/odbl/1.0/. If DisGeNET is incorporated into other works,
we ask that the DisGeNET IDs are preserved, and that the release number of DisGeNET is clearly displayed.
- Cytoscape Plugin License
The DisGeNET plugin is distributed under the GNU GPL 3.0 license.
More details about the GNU General Public License 3.0 is available
- Citation Requirements and Guidelines
The DisGeNET database use is subject to appropriate acknowledgement.
Please follow our
- NLM Use Terms
Data from the U.S. National Library of Medicine (NLM) are provided pursuant to the
NLM represents that its data were formulated with a reasonable standard of care. Except for this
representation, NLM makes no representation or warranties, expressed or implied. This includes, but is
not limited to, any implied warranty of merchantability or fitness for a particular purpose, with
respect to the NLM data, and NLM specifically disclaims any such warranties and representations.
In the current version of DisGeNET database a static version of the MEDLINE®/PubMed® data downloaded
the February 25th 2014, is integrated. Therefore, be aware that the DisGeNET database and Cytoscape
plugin do not reflect the most current biomedical/scientific data available from NLM.
NLM databases are produced by a U.S. Government agency and as such are not protected by US copyright
laws. Use of the databases outside the United States may be governed by applicable foreign copyright
NLM assumes no responsibility or liability associated with use of copyrighted material, including
transmitting, reproducing, redistributing, or making commercial use of the data. NLM does not provide
legal advice regarding copyright, fair use, or other aspects of intellectual property rights. Persons
contemplating any type of transmission or reproduction of copyrighted material such as abstracts are
advised to consult legal counsel.
All complete or parts of NLM-derived records that are redistributed or retransmitted must be identified
as being derived from NLM databases. Examples are: "From MEDLINE®/PubMed®, a database of the U.S.
National Library of Medicine." and "MeSH Headings from MEDLINE®/PubMed®, a database of the U.S.
Library of Medicine."
Some material in the NLM databases derives from copyrighted publications. Publishers and/or authors
often claim copyright on the abstracts in MEDLINE®/PubMed®. Refer to the publication data appearing in
the citations, as well as to the copyright notices appearing in the original publications, all of which
are hereby incorporated by reference. Users of the NLM databases are solely responsible for compliance
with fair use guidelines and applicable copyright restrictions. Users should consult legal counsel
before using NLM-produced records to be certain that their plans are in compliance with appropriate
- UMLS® Metathesaurus® Use Terms
Acknowledgments to original resources
- UMLS® Metathesaurus® data is used under the terms of the UMLS® Metathesaurus®
DisGeNET is a derivative database that integrates gene-disease associations from several public
expert curated data sources and text-mining derived associations.
We would like to acknowledge all the data sources from where the data are derived:
CTDTM or Comparative Toxicogenomics DatabaseTM contains manually curated
information about gene-disease relationships with focus on understanding the effects of
chemicals on humans health.
Curated gene-disease data were retrieved from the CTDTM, Mount Desert Island
Laboratory, Salisbury Cove, Maine.
GAD or the Genetic Association Database is an
archive of human genetic association studies of complex diseases and disorders.
This includes summary data extracted from published papers in peer-reviewed journals on
candidate gene and GWAS studies.
The goal of this database is to allow the user to rapidly identify medically relevant
polymorphism from the large volume of polymorphism and mutational data, in the context of
- GWAS Catalog:
The GWAS Catalog is provided jointly by the National Human Genome Research Institute (NHGRI) and the
Bioinformatics Institute (EMBL-EBI). The Catalog is a quality controlled, manually curated,
collection of all published genome-wide association studies assaying at least 100,000 SNPs and all SNP-trait
associations with p-values < 1.0 x 10-5.
The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of
providing the biomedical community with consistent, reusable and sustainable descriptions of human disease
terms, phenotype characteristics and related medical vocabulary disease concepts through collaborative
of researchers at Northwestern University, Center for Genetic Medicine and the University of Maryland School
Medicine, Institute for Genome Sciences.
Gene-disease associations and sentences shown in the DisGeNET Web interface services are from
MEDLINE®/PubMed®, a database of NLM or the U.S. National Library of Medicine. MEDLINE® is the NLM
bibliographic database that contains journal citations and abstracts for biomedical literature from around
world. PubMed® provides free access to MEDLINE® and links to full text articles when possible. A
the human gene-disease associations contained in DisGeNET were derived from MEDLINE®, by means of text
(Bundschus et al, 2008) and the
MGD or the Mouse Genome Database, at The Jackson Laboratory, Bar Harbor, Maine,
is the international database resource for the
mouse, providing integrated genetic, genomic, and biological data to facilitate the study of
health and disease.
MGD strives to provide an extensively integrated information resource with experimental details
annotated from both literature and on-line genomic data sources.
MGD curates and presents the consensus representation of genotype (sequence) to phenotype
information including highly detailed information about genes and gene products.
ClinVar: ClinVar, a database of the U.S. National Library of Medicine, is a freely accessible, public
archive of reports of the relationships among
human variations and phenotypes, with supporting evidence.
Gene: NCBI Gene,
a database of the U.S. National Library of Medicine, integrates information from a wide range of
A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways,
variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources
NLM or the U.S. National Library of Medicine represents that its data were
formulated with a reasonable standard of care. Except for this representation,
NLM makes no representation or warranties, expressed or implied. This includes, but is not
limited to, any implied warranty of merchantability or fitness for a particular purpose, with
the NLM data, and NLM specifically disclaims any such warranties and representations.
- Reactome: Reactome is an open-source, open access,
manually curated and peer-reviewed pathway database. All the pathway information in DisGeNET is
originally extracted from Reactome.
The contents of Reactome are copyright ©
2003-2016 Cold Spring Harbor Laboratory (CSHL), Ontario Institute for Cancer Research (OICR)
and the European Bioinformatics Institute (EBI).
RGD or the Rat Genome Database, at the Medical College of Wisconsin,
is the premier site for genetic, genomic, phenotype, and disease data generated from rat research.
an online rare disease and orphan drug data base (© INSERM 1997)
is the reference portal for information on rare diseases and orphan drugs, for all audiences.
Orphanet's aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
Available on http://www.orpha.net. Accessed on January 25, 2016.
- UMLS: UMLS® or Unified Medical Language System®,
a database of the U.S. National Library of Medicine, is a set of files and software that brings
together many health
and biomedical vocabularies and standards to enable interoperability between computer systems.
UniProtKB/Swiss-Prot is one of the two sections of UniProt Knowledgebase (UniProtKB).
This database contains manually curated information about protein sequence, structure and
Moreover, it provides information on the functional effect of sequence variants and their
association to disease.
For more information, please see the related
DisGeNET RDF is a semantic formal representation of the DisGeNET content. We would like to acknowledge all the
terminologies and ontologies that provide us the proper classes and relations to stablish data semantics:
Third Party Content, Web Sites, Products and Services
NCBO or the National Center for Biomedical Ontology is a center funded by the National Institutes of Health
(NIH) and is part of the network of National Centers for Biomedical Computing. The goal of the National
for Biomedical Ontology is to support biomedical researchers in their knowledge-intensive work, by providing
online tools and a Web portal enabling them to access, review, and integrate disparate ontological resources
all aspects of biomedical investigation and clinical practice.
NCTt or National Cancer Institute thesaurus, at the National Institutes of Health, provides
reference terminology for many NCI and other systems. It covers vocabulary for clinical care,
translational and basic research, and public information and administrative activities.
SIO or the Semanticscience Integrated Ontology, is an ontology to facilitate biomedical
knowledge discovery and it provides foundational support for the Bio2RDF
project. SIO is implemented as an OWL-DL ontology that provides a simple, integrated
ontology of types and relations for rich description of objects, processes and their attributes.
- DCMI Metadata terms:
DCMI Metadata terms or Dublin Core® Metadata Initiative Metadata Terms, are all
metadata terms maintained by the Dublin Core Metadata Initiative. The Dublin Core Metadata
Initiative, or "DCMI", is an open organization supporting innovation in metadata design and best
practices across the metadata ecology. DCMI's activities include work on architecture and
modeling, discussions and collaborative work in DCMI Communities and DCMI Task Groups, global
conferences, meetings and workshops, and educational efforts to promote widespread acceptance of
metadata standards and best practices. DCMI maintains a number of formal and informal liaisons
and relationships with standards bodies and other metadata organizations.
The Human Phenotype Ontology (HPO) developed by
the Human Phenotype Ontology Consortium aims to provide a standardized
vocabulary of phenotypic abnormalities encountered in human disease.
Terms in the HPO describes a phenotypic abnormality, such as atrial
Be aware that part of the content integrated in the DisGeNET database comes from third parties licensed data,
and respective copyright holders retain rights for reproduction, redistribution and reuse. The IBI group cannot
provide unrestricted permission regarding the use of the data, as some data may be covered by patents or other
rights. Users of the DisGeNET database are solely responsible for compliance with fair use guidelines and
applicable license/copyright restrictions imposed by the content providers. Users should carefully read these
licenses before re-distributing any content in any type of application as there may be additional restrictions,
permissions or copyright considerations imposed by the content providers. Users must contact the DisGeNET
content providers regarding any use that is not covered by their licenses. Users should consult legal counsel
before using DisGeNET database-produced records to be certain that their plans are in compliance with
appropriate laws in your jurisdiction.
The Site provides links to Web sites and access to content, products and services from third parties. By using
DisGeNET, you agree that we are not responsible for the availability of, and content provided on, third party
Web sites. You agree that we are not responsible for the quality of third party products or services. You agree
that we are not responsible for any loss or damage of any sort you may incur from dealing with any third party.
Except where expressly provided otherwise, the site, and all content, materials, information, software, products
services provided on the site, are provided on an "as is" and "as available" basis. The IBIgroup expressly
all warranties of any kind, whether express or implied, including, but not limited to, the implied warranties of
merchantability, fitness for a particular purpose and non-infringement. The IBI group makes no warranty that:
a. the site will meet your requirements
b. the site will be available on an uninterrupted, timely, secure, or error-free basis (though IBI will
best-efforts to ensure continual uptime and availability of its content)
c. the results that may be obtained from the use of the site or any services offered through the site will be
accurate or reliable
d. the quality of any products, services, information, or other material obtained by you through the site will
Any content, materials, information or software downloaded or otherwise obtained through the use of the site is
at your own discretion and risk. The IBI group shall have no responsibility for any damage to your computer
or loss of data that results from the download of any content, materials, information or software. The IBI group
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Limitation of liability
In no event shall the IBI group be liable for any direct, indirect, incidental, special or consequential
damages for loss of profits, revenue, data or use, incurred by you or any third party, whether in an action in
or tort, arising from your access to, or use of, the site. Some jurisdictions do not allow the limitation or
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liability associated with use of licensed/copyrighted material, including transmitting, reproducing,
making commercial use of any third party data. The IBI group does not provide legal advice regarding copyright,
use, or other aspects of intellectual property rights. Persons contemplating any type of transmission or
copyrighted material such as abstracts are advised to consult legal counsel.
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Attribution-NonCommercial-NoDerivatives 4.0 International License.
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