In addition, the top two enriched KEGG pathways were: 1) the Fanconi Anaemia pathway (represented by ATR, BRIP1, ERCC4, FANCC and POLH) and (2) the FoxO signalling pathway (represented by CREBBP, NLK, PRKAA2, PRKAB1, PTEN and STK11). The gene discussed is ERCC4; the disease is Fanconi anemia.