APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Disease: Cutis laxa, autosomal recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		0.010 Biomarker disease BEFREE Based on the iso-electric focusing patterns of plasma transferrin and apolipoprotein C-III a combined defect in N- and O-glycosylation was identified in patients with autosomal recessive cutis laxa type II (ARCL II). 19171192 2009