Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris
0.010 GeneticVariation disease BEFREE In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. 30417923 2019