APOC1, apolipoprotein C1, 341

N. diseases: 95; N. variants: 19
Disease: Skin Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.020 AlteredExpression group BEFREE Obese obob mice with strong overexpression of the human apolipoprotein C1 (APOC1) exhibit excessive free fatty acid (FFA) and triglyceride (TG) levels and severely reduced body weight (due to the absence of subcutaneous adipose tissue) and skin abnormalities. 14523051 2004
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.020 GeneticVariation group BEFREE Since these skin abnormalities appeared in two independent founder lines, a mutation related to the specific insertion site of the human APOC1 gene as the cause for the phenotype can be excluded. 9421476 1998