ArticleScientific reports2017
Genetic and functional characterization of disease associations explains comorbidity.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic correlation and causal relationships between autoimmune thyroid disease and major depressive disorders.Acta neuropsychiatrica · 2025Pooled it
- The Shared Genetic Architectures Between Lung Cancer and Multiple Polygenic Phenotypes in Genome-Wide Association Studies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021Pooled it
- Measurement of Disease Comorbidity Using Semantic Profiling of Disease Genes.International journal of molecular sciences · 2025Article
- Polygenic scores contribution to Parkinson's disease comorbidities.Brain communications · 2025Article
- Shared genetic architecture of non-viral cirrhosis with several pleiotropic traits: A nested case-control study in the UK Biobank.Liver international communications · 2024Article
- Integrated Pleiotropic Gene Set Unveils Comorbidity Insights across Digestive Cancers and Other Diseases.Genes · 2024Article
- Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data.Bioinformatics (Oxford, England) · 2023Article
- Applying precision medicine principles to the management of multimorbidity: the utility of comorbidity networks, graph machine learning, and knowledge graphs.Frontiers in medicine · 2023Review
- Exploring novel disease-disease associations based on multi-view fusion network.Computational and structural biotechnology journal · 2023Article
- NETMAGE: A human disease phenotype map generator for the network-based visualization of phenome-wide association study results.GigaScience · 2022Article
- Psychosis Biotypes: Replication and Validation from the B-SNIP Consortium.Schizophrenia bulletin · 2022Article
- Extracting Significant Comorbid Diseases from MeSH Index of PubMed.Methods in molecular biology (Clifton, N.J.) · 2022Article
- The shared genetic architecture between epidemiological and behavioral traits with lung cancer.Scientific reports · 2021Article
- PCOSKBScientific reports · 2020Article
- The Interplay between Diabetes and Alzheimer's Disease-In the Hunt for Biomarkers.International journal of molecular sciences · 2020Review
- Conceptualization of Heterogeneity of Chronic Diseases and Atherosclerosis as a Pathway to Precision Medicine: Endophenotype, Endotype, and Residual Cardiovascular Risk.International journal of chronic diseases · 2020Review
- Analysis of disease comorbidity patterns in a large-scale China population.BMC medical genomics · 2019Article
- Comorbidity of asthma and hypertension may be mediated by shared genetic dysregulation and drug side effects.Scientific reports · 2019Article
- Protein-Protein Interaction Network Analysis Reveals Several Diseases Highly Associated with Polycystic Ovarian Syndrome.International journal of molecular sciences · 2019Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Understanding relationships between diseases, such as comorbidities, has important socio-economic implications, ranging from clinical study design to health care planning. Most studies characterize disease comorbidity using shared genetic origins, ignoring pathway-based commonalities between diseases. In this study, we define the disease pathways using an interactome-based extension of known disease-genes and introduce several measures of functional overlap. The analysis reveals 206 significant links among 94 diseases, giving rise to a highly clustered disease association network. We observe that around 95% of the links in the disease network, though not identified by genetic overlap, are discovered by functional overlap. This disease network portraits rheumatoid arthritis, asthma, atherosclerosis, pulmonary diseases and Crohn's disease as hubs and thus pointing to common inflammatory processes underlying disease pathophysiology. We identify several described associations such as the inverse comorbidity relationship between Alzheimer's disease and neoplasms. Furthermore, we investigate the disruptions in protein interactions by mapping mutations onto the domains involved in the interaction, suggesting hypotheses on the causal link between diseases. Finally, we provide several proof-of-principle examples in which we model the effect of the mutation and the change of the association strength, which could explain the observed comorbidity between diseases caused by the same genetic alterations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.