DisGeNET statistics

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Citations per year

Number of citations per year for the bioinformatics software tool DisGeNET

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Associated diseases


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DisGeNET specifications


Unique identifier OMICS_30000
Name DisGeNET
Restrictions to use None
Database management system SQLite
Community driven No
Data access File download, Browse
User data submission Not allowed
Version 5.1
Content license CC Attribution-NonCommercial-ShareAlike
Maintained No


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Publications for DisGeNET

DisGeNET citations


Transcriptional profiling of human bronchial epithelial cell BEAS 2B exposed to diesel and biomass ultrafine particles

BMC Genomics
PMCID: 5923024
PMID: 29703138
DOI: 10.1186/s12864-018-4679-9

[…] if the False Discovery Rate (FDR) was ≤0.05 when using 1000 permutations of gene sets. To test DEGs enrichment for diseases signatures we used the ToppGene tool (https://toppgene.cchmc.org/) with the DisGeNET database (http://www.disgenet.org/), considering significant only the diseases with FDR corrected p-value ≤0.05.Groups of genes with a differential temporal expression profile in exposed cell […]


A network pharmacology approach to determine the synergetic mechanisms of herb couple for treating rheumatic arthritis

Drug Des Devel Ther
PMCID: 5923250
PMID: 29731604
DOI: 10.2147/DDDT.S161904

[…] and STITCH were used to predict 301 targets, which interacted with 12 active ingredients. It is interesting that another nine ingredients were removed for having no relevant targets. In addition, the DisGeNET database was also used to predict 1,869 targets associated with RA. […]


From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results

PLoS One
PMCID: 5884486
PMID: 29617380
DOI: 10.1371/journal.pone.0193515

[…] diagram created with Venny [].Concerning gene information, we manually retrieved functional gene descriptions for the genes from GeneCards (http://www.genecards.org/) [] and disease associations from DisGeNET (http://www.disgenet.org/) []. The evidence obtained was sorted using “Diabetes” as a keyword and the article pertinence was evaluated using both the DisGeNET score and reading the article. D […]


SRMDAP: SimRank and Density Based Clustering Recommender Model for miRNA Disease Association Prediction

Biomed Res Int
PMCID: 5884242
PMID: 29750163
DOI: 10.1155/2018/5747489
call_split See protocol

[…] atabase to construct the miRNA similarity network [] (http://mirtarbase.mbc.nctu.edu.tw/, Release 6.0: Sept-15-2015). Meanwhile, experimentally verified disease-related mRNAs were downloaded from the DisGeNET database [] (http://www.disgenet.org/web/DisGeNET/menu/home, DisGeNET 4.0: October 2016) to construct a disease similarity network. Experimentally verified miRNA-disease network was downloade […]


Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat

BMC Genomics
PMCID: 5741965
PMID: 29272997
DOI: 10.1186/s12864-017-4351-9

[…] by the LH strain (insulin resistance, dyslipidaemias) and by the LH and LL strains (obesity) plus two symptoms not obviously present in these strains as control (heart disease and Alzheimers), using DisGeNET (v4.0 [, ]) (see ). For this analysis, we used the corresponding human orthologues of the selected rat genes because the DisGeNET data is mainly for human (see ). A total of 7542 and 7520 rat […]


Integrative Analysis to Identify Common Genetic Markers of Metabolic Syndrome, Dementia, and Diabetes

PMCID: 5737114
PMID: 29229897
DOI: 10.12659/MSM.905521

[…] abnormal human phenotypes, and 72,870 variant-disease associations, between 46,589 SNPs and 6,356 diseases and phenotypes. The GDAs were mined from MEDLINE via a NLP-based approach. Furthermore, the DisGeNET discovery platform allowed prioritizing of GDAs on the basis of the evidence supporting the data. The inbuilt statistical algorithm was used to score the association of genes with the disease […]

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DisGeNET institution(s)
Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain; Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Penzberg, Roche Diagnostics GmbH, Penzberg, Germany; Scientific & Business Information Services, Roche Diagnostics GmbH, Penzberg, Germany
DisGeNET funding source(s)
Supported by Instituto de Salud Carlos III-Fondo Europeo de Desarrollo Regional (CP10/00524 and PI13/00082), the Innovative Medicines Initiative Joint Undertaking (115002 (eTOX), 115191 [Open PHACTS]), resources of which are composed of financial contribution from the European Union’s Seventh Framework Programme [FP7/2007-2013] and EFPIA companies’ in kind contribution.

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