The advent of genome-scale genetic and genomic studies allows new insight into disease classification. Recently, a shift was made from linking diseases simply based on their shared genes towards systems-level integration of molecular data. Here, we aim to find relationships between diseases based on evidence from fusing all available molecular interaction and ontology data. We propose a multi-level hierarchy of disease classes that significantly overlaps with existing disease classification. In it, we find 14 disease-disease associations currently not present in Disease Ontology and provide evidence for their relationships through comorbidity data and literature curation.
COBISS.SI-ID: 10253396
Breast cancer accounts for more than 450,000 deaths per year worldwide. Discovery of novel therapeutic targets that will allow patient-tailored treatment of this disease is an emerging area of scientific interest. Recently, nicastrin (NSCTN) has been identified as one such therapeutic target. In this paper we analyse data from a large invasive breast carcinoma study and confirm nicastrin amplification. In search for genes that are co-amplified with nicastrin, we identify a potential novel breast cancer related amplicon located on chromosome. Among influential interactors we find genes which belong to the Core Diseasome (a recently identified therapeutically relevant set of genes which is known to drive disease formation).