Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.020 Biomarker group BEFREE We report a case of TAP1 deficiency revealed by skin lesions long before the occurrence of respiratory infectious manifestations. 30189467 2018
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.020 GeneticVariation group BEFREE Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation. 23662797 2014