Related Experiment Video
Updated: Jun 2, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
OrthoDisease: tracking disease gene orthologs across 100 species
Kristoffer Forslund1, Fabian Schreiber, Nattaphon Thanintorn
1Stockholm Bioinformatics Center, Department of Biochemistry and Biophysics, Stockholm University, Albanova, 10691 Stockholm, Sweden.
Abstract:
Orthology is one of the most important tools available to modern biology, as it allows making inferences from easily studied model systems to much less tractable systems of interest, such as ourselves. This becomes important not least in the study of genetic diseases. We here review work on the orthology of disease-associated genes and also present an updated version of the InParanoid-based disease orthology database and web site OrthoDisease, with 14-fold increased species coverage since the previous version. Using this resource, we survey the taxonomic distribution of orthologs of human genes involved in different disease categories. The hypothesis that paralogs can mask the effect of deleterious mutations predicts that known heritable disease genes should have fewer close paralogs. We found large-scale support for this hypothesis as significantly fewer duplications were observed for disease genes in the OrthoDisease ortholog groups.
Related Concept Videos
Evolutionary Relationships through Genome Comparisons
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Synteny and Evolution
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral chromosome underwent...
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Gene Evolution - Fast or Slow?
In contrast, regions which code...

