Knowledge platform on human diseases and their genes
Joined November 2014
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UniProt, the reference resource for proteins, provides links to DISGENET plus.
Links to DISGENET plus information on diseases associated with human genes are available to UniProt/SwissProt human protein entries.
uniprot.org/
disgenetplus.com/
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DisGeNET retweeted
17 Oct 2023
🗣️New release of DISGENET plus (v23)
🐁New data source: Mouse Genome Database
🧬10% increase in the number of GDAs: more than 175K new GDAs available
⚕️2.5K new diseases and phenotypes incorporated into the database
👉🏽More info at disgenetplus.com/
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🗣️Check out our new article! Visualization of automatically combined #diseasemaps and #pathway diagrams for #rarediseases
doi.org/10.3389/fbinf.2023.1…
gitlab.lcsb.uni.lu/minerva/a…
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DisGeNET retweeted
7 Jul 2023
🗣️New release of DISGENET plus (v22)
🧬New associations: more than 40K new GDAs and VDAs in the DB
🧪New search functionalities for chemicals in the web and the REST API
⚕️New semantic relations between diseases
👉🏽To learn more about the new features: disgenetplus.com
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DisGeNET retweeted
3 Mar 2023
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Thorough review and recommended best practices for leveraging human genetics to improve drug safety assessment #drugsafety #Genetics #drugdevelopment #targetvalidation
20 Oct 2022
I am very happy to share our review article “Using Human Genetics to Improve Safety Assessment of Therapeutics”, now published in @NatRevDrugDisc. 🧵
nature.com/articles/s41573-0…
DisGeNET retweeted
27 Oct 2022
👉🏽 Check our new post on genetic support for FDA drug approvals in 2021
🧬DISGENET plus has genetic support for 90% of FDA drug approvals in 2021
📚This surpasses publicly available resources, which support 66% of drug approvals
#drugefficacy #Genetics
medbioinformatics.com/geneti…
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DisGeNET retweeted
7 Jun 2022
The ELIXIR Interoperability Platform updates by co-lead @SusannaASansone on the Interoperability FAIR services framework
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DisGeNET retweeted
28 Feb 2022
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DisGeNET retweeted
8 Feb 2022
Looking for a job in #bioinformatics? we have four positions open at GRIB:
👉2 postdocs on #machinelearning
👉Manager assistant on research projects
👉Technical position for platform @DisGeNET
Read the details grib.imim.es/job-opportuniti… @IMIM_research @UPFBarcelona @the_prbb @bib
ALT Sunrise at the PRBB
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DisGeNET retweeted
27 Jan 2022
The amazing Ferran Sanz presenting @DisGeNET at the @UPFbiomed meeting. A presential, lively meeting.
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Diversity and molecular network patterns of symptom phenotypes
nature.com/articles/s41540-0…
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DisGeNET retweeted
24 Nov 2021
Frustrated when things don't work together? 🧩😫
#Software, #data & even #datastandards can differ b/w resources, making it hard to streamline #dataanalysis.
'Recommended interoperability resources' are our list of resources overcoming this problem.
bit.ly/2KSjAPg
BridgeDb is a @ELIXIREurope Recommended Interoperability Resources (RIR) and a service of the Interoperability Platform. The purpose of RIRs are to make other tools together easier #ELIXIRRIR
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New! Users can now download the variant-disease associations in DisGeNET as gmt files. See more here: disgenet.org/downloads#secti…
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Do you know that @DisGeNET provides different metrics to explore and filter the data? 👉🏽 Check out this interesting meta-analysis on transcriptomic data on Down Syndrome by @maradierssen et al as an example of using our Disease Pleiotropy Index (DPI)
28 Sep 2021
Brilliant work from @ilariodetoma and @CesarSierraN, at the @CRGenomica! that also produced two useful tools that we made freely available to the scientific community: ilariodetoma.shinyapps.io/sh…
github.com/Ilarius/metaDEA
Thank you also to @FondLejeune for their continued support!
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