Disease: Capillary malformation (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.020 Biomarker disease BEFREE CMC may be part of a complex clinical phenotype like in patients with deficiencies of STAT3, IL-12Rβ1/IL-12p40 and APS-1 or may be the only or dominant phenotypic manifestation of disease which is referred to as CMC disease. 26154078 2015
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.020 AlteredExpression disease BEFREE Mutations in STAT1, IL12B and IL12RB1 result in CMC secondary to decreased IL-17 production through different mechanisms. 22838497 2012