ArticleProceedings of the National Academy of Sciences of the United States of America2008
Network properties of genes harboring inherited disease mutations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 2 of them syntheses that pooled it.
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Who cites it
139 citing papers in PubMed, 2 syntheses or guidelines pooled it, 294 citations in OpenAlex.
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- Network Physiology of Exercise: Beyond Molecular and Omics Perspectives.Sports medicine - open · 2022Article
- Protein interaction networks provide insight into fetal origins of chronic obstructive pulmonary disease.Respiratory research · 2022Article
- Unraveling T Cell Responses for Long Term Protection of SARS-CoV-2 Infection.Frontiers in genetics · 2022Article
- Prevalence, antibiotic profile, virulence determinants, ESBLs, and non-β-lactam encoding genes of MDRFrontiers in genetics · 2022Article
- Potential gene identification and pathway crosstalk analysis of age-related macular degeneration.Frontiers in genetics · 2022Article
- Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph.PloS one · 2022Article
- Network medicine in Cardiovascular Research.Cardiovascular research · 2021Review
- The VRNetzer platform enables interactive network analysis in Virtual Reality.Nature communications · 2021Article
- Network Analysis Reveals Proteins Associated with Aortic Dilatation in Mucopolysaccharidoses.Interdisciplinary sciences, computational life sciences · 2021Article
- Locally Adjust Networks Based on Connectivity and Semantic Similarities for Disease Module Detection.Frontiers in genetics · 2021Article
- Differential Co-Expression Analyses Allow the Identification of Critical Signalling Pathways Altered during Tumour Transformation and Progression.International journal of molecular sciences · 2020Review
- A Combined Analysis of Genetically Correlated Traits Identifies Genes and Brain Regions for Insomnia.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Mitochondria interaction networks show altered topological patterns in Parkinson's disease.NPJ systems biology and applications · 2020Article
- A method for estimating coherence of molecular mechanisms in major human disease and traits.BMC bioinformatics · 2020Article
79 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
By analyzing, in parallel, large literature-derived and high-throughput experimental datasets we investigate genes harboring human inherited disease mutations in the context of molecular interaction networks. Our results demonstrate that network properties influence the likelihood and phenotypic consequences of disease mutations. Genes with intermediate connectivities have the highest probability of harboring germ-line disease mutations, suggesting that disease genes tend to occupy an intermediate niche in terms of their physiological and cellular importance. Our analysis of tissue expression profiles supports this view. We show that disease mutations are less likely to occur in essential genes compared with all human genes. Disease genes display significant functional clustering in the analyzed molecular network. For about one-third of known disorders with two or more associated genes we find physical clusters of genes with the same phenotype. These clusters are likely to represent disorder-specific functional modules and suggest a framework for identifying yet-undiscovered disease genes.
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