APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency 		0.610 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.460 Biomarker disease HPO
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.200 Biomarker disease HPO
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.110 Biomarker disease HPO
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		0.100 Biomarker phenotype HPO
CUI: C4015848
Disease: APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C4551591
Disease: Increased HDL cholesterol concentration
Increased HDL cholesterol concentration 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE We have recently isolated and characterized the human apo A-I gene and have shown that apo A-I and apolipoprotein C-III (apo C-III) genes are physically linked and that a polymorphism (of unknown frequency in the general population) of the apo A-I gene is inherited as a mendelian trait linked to premature atherosclerosis in an affected family (not the same polymorphism as has previously been reported to be associated with hypertriglyceridaemia). 6314145 1983
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 Biomarker disease BEFREE We have recently reported that the human apolipoprotein A-I (apoA-I) and apolipoprotein C-III (apoC-III) genes are physically linked and that the presence of a DNA insertion in the apoA-I gene is correlated with apoA-I-apoC-III deficiency in patients with premature atherosclerosis. 2989400 1985
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 GeneticVariation disease BEFREE DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. 3911967 1985
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE We have recently reported that the human apolipoprotein A-I (apoA-I) and apolipoprotein C-III (apoC-III) genes are physically linked and that the presence of a DNA insertion in the apoA-I gene is correlated with apoA-I-apoC-III deficiency in patients with premature atherosclerosis. 2989400 1985
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 GeneticVariation disease BEFREE DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. 3911967 1985
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 GeneticVariation phenotype BEFREE In addition, the presence of a polymorphic restriction endonuclease site (SacI) in the 3' noncoding region of apoC-III mRNA has been correlated with hypertriglyceridemia in humans. 2989400 1985
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease BEFREE Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction. 2862468 1985
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.020 Biomarker phenotype BEFREE These findings indicate that the polymorphism in the region between the apolipoprotein A-I and apolipoprotein C-III genes may be a useful marker for the risk of premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		0.020 Biomarker phenotype BEFREE Finally, restriction mapping analysis of DNA from a patient with combined APOA1-APOC3 deficiency and premature coronary artery disease indicated that this patient has a structurally normal APOA4 gene. 3095836 1986
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.010 Biomarker disease BEFREE These findings indicate that the polymorphism in the region between the apolipoprotein A-I and apolipoprotein C-III genes may be a useful marker for the risk of premature coronary artery disease and familial hypoalphalipoproteinemia. 3081805 1986
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.200 GeneticVariation disease BEFREE We have studied the frequency of DNA polymorphisms in and around the apolipoprotein A-1 (Apo-A1) and apolipoprotein CIII (Apo-CIII) gene loci in 53 persons of Caucasian descent with genetic hyperlipidemias. 2883893 1987
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 Biomarker disease BEFREE These results indicate that absence of transcripts with correct apoAI and apoCIII mRNA sequences causes apoAI and apoCIII deficiency in the plasma of these patients and suggest that these apolipoproteins are involved in cholesterol homeostasis and protection against premature atherosclerosis. 3118360 1987
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE These results indicate that absence of transcripts with correct apoAI and apoCIII mRNA sequences causes apoAI and apoCIII deficiency in the plasma of these patients and suggest that these apolipoproteins are involved in cholesterol homeostasis and protection against premature atherosclerosis. 3118360 1987
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.010 AlteredExpression disease BEFREE Our data provide further evidence that these RFLPs around and within the Apo-A1/Apo-CIII genes do not participate in unmasking clinical expression in persons with familial dysbetalipoproteinemia. 2883893 1987