COLEC11, collectin subfamily member 11, 78989

N. diseases: 83; N. variants: 9
Disease: Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.010 Biomarker disease BEFREE We also demonstrate that three disease-associated mutations prevent secretion of CL-K1 from mammalian cells, accounting for the protein deficiency observed in patients. 25912189 2015