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. 2017 Apr 17;12:61. doi: 10.1186/s13023-017-0614-4

Fig. 1.

Fig. 1

Texting mining algorithm to search for targetable rare diseases. We filtered all Mendelian diseases with known mutated genes in the OMIM for gain-of-function and late clinical onset related terms for the fist step of filtering to determine our disease targets. In a parallel branch of the pipeline, we filtered for diseases due to loss-of-function mutations with known allosteric activators. All candidates must have a solved protein structure. We manually verified the final disease list to ensure each disease mechanism and onset match our computationally generated label