Disease: Hypocholesterolemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Mutations in PCSK9 that strengthen its interactions with LDLR result in familial hypercholesterolemia (FH) and early onset atherosclerosis, while nonsense mutations of PCSK9 result in cardio-protective hypocholesterolemia. 31805108 2019
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 Biomarker disease BEFREE A case of hypocholesterolemia and steatosis in a carrier of a PCSK9 loss-of-function mutation and polymorphisms predisposing to nonalcoholic fatty liver disease. 28711549 2018
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE This challenging work in the genetics of hypercholesterolemia paved the way for a plethora of studies around the world allowing the characterization of PCSK9, its expression, its impact on reducing the abundance of LDL receptor, and the identification of loss-of-function mutations in hypocholesterolemia. 25052769 2014
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Some of the natural occurring PCSK9 mutations increase the protein function (gain of function) and cause hypercholesterolemia, whereas loss of function mutations associate with hypocholesterolemia. 21943799 2011
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Several gain-of-function and loss-of-function mutations in the PCSK9 gene have been identified and linked to hypercholesterolemia and hypocholesterolemia, respectively. 21619378 2011
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Gain-of-function and loss-of-function mutations within PCSK9 gene lead to hypercholesterolemia or hypocholesterolemia respectively. 21040917 2010
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE These reports also elucidated the mode of action of several naturally occurring mutants of PCSK9 associated with hyper- or hypocholesterolemia. 18649882 2009
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia. 18710658 2008
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Loss-of-function mutations within PCSK9 have been shown to cause hypocholesterolemia. 18680192 2008
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Two nonsense single-nucleotide polymorphisms (SNPs) at the PCSK9 locus have been associated with life-long hypocholesterolemia and a remarkable reduction of the risk for coronary heart disease (CHD) in African-Americans. 17502126 2007
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Mutations of PCSK9 are associated either with hypercholesterolemia or with hypocholesterolemia. 17495605 2007
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9 missense mutants (S127R and D374Y, associated with hypercholesterolemia, and R46L, associated with hypocholesterolemia) correlate with LDL cholesterol levels in humans carrying such mutations. 17493938 2007
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Mutations in the proprotein convertase PCSK9 gene are associated with autosomal dominant familial hyper- or hypocholesterolemia. 17461796 2007
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Mutations in the PCSK9 gene have been associated with both hypocholesterolemia and hypercholesterolemia through 'loss-of-function' and 'gain-of-function' mechanisms, respectively. 16571601 2006
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 GeneticVariation disease BEFREE Using the sequencing approach, we found that the c.43_44insCTG variation in PCSK9, a common in-frame insertion in both African American and Caucasian populations, is associated with the hypocholesterolemia phenotype in three FHBL families. 16619215 2006
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 Biomarker disease BEFREE Mutations in the PCSK9 gene that disrupt the normal function of PCSK9 could therefore result in increased number of LDLRs and hypocholesterolemia. 16424354 2006
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.200 CausalMutation disease CLINVAR