Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714992
Disease: CANDIDIASIS, FAMILIAL, 8
CANDIDIASIS, FAMILIAL, 8
0.700 Biomarker disease GENOMICS_ENGLAND An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. 24120361 2013
CUI: C3714992
Disease: CANDIDIASIS, FAMILIAL, 8
CANDIDIASIS, FAMILIAL, 8
0.700 GeneticVariation disease UNIPROT An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. 24120361 2013
CUI: C3714992
Disease: CANDIDIASIS, FAMILIAL, 8
CANDIDIASIS, FAMILIAL, 8
0.700 CausalMutation disease CLINVAR
CUI: C3714992
Disease: CANDIDIASIS, FAMILIAL, 8
CANDIDIASIS, FAMILIAL, 8
0.700 Biomarker disease CTD_human