ANGPTL3, angiopoietin like 3, 27329

N. diseases: 81; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.400 CausalMutation disease CLINVAR
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		0.400 Biomarker disease CTD_human
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.300 Biomarker disease GENOMICS_ENGLAND
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 Biomarker disease BEFREE These results suggest that Angptl3 is involved in atherosclerosis susceptibility in both mouse and human. 15530921 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE These results suggest that Angptl3 is involved in atherosclerosis susceptibility in both mouse and human. 15530921 2004
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.050 Biomarker group BEFREE These results strongly suggest ANGPTL3 to play an important role in hyperlipidemia in diabetes. 15094378 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.040 AlteredExpression disease BEFREE Furthermore, the level of ANGPTL3 mRNA was increased more than 3.0-fold in type 2 diabetic obese mice, db/db mice, as compared with age matched lean littermates. 15094378 2004
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 Biomarker disease BEFREE These results strongly suggest ANGPTL3 to play an important role in hyperlipidemia in diabetes. 15094378 2004
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.030 Biomarker disease BEFREE These results strongly suggest ANGPTL3 to play an important role in hyperlipidemia in diabetes. 15094378 2004
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 AlteredExpression disease BEFREE The current study examined the regulation of Angptl3 by leptin and insulin, both of which are key players in the metabolic syndrome. 15336575 2004
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.110 AlteredExpression disease BEFREE Angptl3-deficient mice also displayed hypotriglyceridemia with elevated PHP LPL activity, but these mice showed a greater effect in the fed state. 16081640 2005
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.030 Biomarker disease BEFREE Moreover, these results demonstrate that therapeutic antibodies that neutralize ANGPTL4 and ANGPTL3 may be useful for treatment of some forms of hyperlipidemia. 19318355 2009
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.100 Biomarker disease BEFREE Angptl3 is associated with atherosclerosis in coronary, carotid, and femoral arteries. 19851103 2010
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.100 Biomarker disease BEFREE Angptl3 is associated with atherosclerosis in coronary, carotid, and femoral arteries. 19851103 2010
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 GeneticVariation disease BEFREE Here, we examined three SNPs, rs12130333 located within the ANGPTL3 locus; rs16996148 residing at the CILP2 gene locus; and rs17321515 at the TRIB1 locus, which were originally reported in association with decreased triglyceride levels; therefore, we investigated their possible protective effect against the development of ischemic stroke. 21691831 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 GeneticVariation disease BEFREE SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholesterol, and apolipoprotein B. ANGPTL3 rs12042319 was associated with CHD risk (OR 1.11; 1.03, 1.19), total- and LDL-cholesterol, triglycerides, and interleukin-6. 21804106 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.070 GeneticVariation group BEFREE Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia. 22896670 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.070 GeneticVariation disease BEFREE Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. 22659251 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.060 GeneticVariation disease BEFREE Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. 22155345 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.060 GeneticVariation disease BEFREE We resequenced ANGPTL3 in 4 members of 3 kindreds originally identified for very low levels of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol (0.97±0.16 and 0.56±0.20 mmol/L, respectively) in whom no mutations of known candidate genes for monogenic hypobetalipoproteinemia and hypoalphalipoproteinemia had been detected. 22062970 2012
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.060 GeneticVariation disease BEFREE These results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent. 22247256 2012