TSC1 and tuberous sclerosis 1: In the example shown in Fig. 1 (right panel), both TSC1 and TSC2 genes (encoding the Hamartin and Tuberin proteins, respectively) annotate two diseases (Tuberous sclerosis-1 and -2), which belong to the same PS (Tuberous sclerosis) and, accordingly, have the same PS identifier, PS191100, even though they have different disease identifiers (MIM 191100 and MIM 613254).