Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028425
Disease: Crusted scabies
Crusted scabies
0.010 GeneticVariation disease BEFREE We identified a novel STAT1 mutation (c.2114A>T, p.E705V) within the SUMO motif (<sup>702</sup>IKTE<sup>705</sup>) in a patient with disseminated Rhodococcus species infection, Norwegian scabies, chronic mucocutaneous candidiasis, hypothyroidism, and esophageal squamous cell carcinoma. 28859974 2018