As a specific validation of our method, we explore the top ranked protein pairs from the combined protein interaction and disease relation scores to find the following relationship. Manual inspection of the literature revealed that many of the putative relationships indeed were supported; here we highlight one example whose connection is not reported in OPHID. We identified the human gene pair hBrm (also known as hSNF2α, Q9H836) and hSNF5 (P51531) via the following path: hSNF5 (human disease gene) → Snf5-related 1 (fly ortholog to human disease gene) → brahma (functionally related fly gene) → hBrm. In both humans and flies the proteins encoded by these genes are subunits of the large multimeric SWI/SNF chromatin remodeling complex. In humans mutations in hSNF are associated with rhabdosarcomas and T cell lymphomas¹ ².

     For this protein pair, an interaction is not reported in OPHID. Also, when searching OMIM, there is little information on disease relationships for either protein. hBrm was reported to be associated with Rhabdoid Predisposition Syndrome and hSnf5 is associated with Leukemia and Gene Expression. Our prediction of this high scoring relationship complemented by the literature suggest the pair have a strong relationship and should be investigated further.

1. C. W. Roberts, et al., Cancer Cells 2, 415 (2002).
2. N. Sevenet, et al., Hum Mol Genet 8, 2359 (1999).