An integrative framework for biomedical and biomolecular relationships among genes and genetic diseases. PhenUMA allows to retrieve information related with a set of genes, diseases or phenotypes of interest. One of its most innovative features is to combine the benefits of semantic similarity methods with the information taken from databases of genetic diseases and biological interactions. It builds, analyzes and visualizes networks based on both functional and phenotypic relationships. PhenUMA allows users to obtain coherent disease and gene clusters related to a particular disease, gene or set of phenotypes for research purposes. This tool helps in the discovery of alternative pathological roles of genes, biological functions and diseases.
Departamento de Biología Molecular y Bioquímica, Universidad de Málaga, Andalucía Tech, Facultad de Ciencias, and IBIMA (Biomedical Research Institute of Málaga), Málaga, Spain; CIBER de Enfermedades Raras (CIBERER), Málaga, Spain
PhenUMA funding source(s)
This work was funded by CIBERER, contract AMER (CDTI, MINECO, Spain), and Grants SAF2011-26528 (MEC, Spain), CVI-06585 (Junta de Andalucia and FEDER) and PS09/02216 (MEC, ISCIII and FEDER).