COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Primary immune deficiency disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.010 Biomarker group BEFREE LAD-I is a rare, autosomal recessive, primary immunodeficiency in which phagocyte adhesion and chemotaxis are impaired. 19912557 2011