Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 GermlineCausalMutation disease ORPHANET "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ""FCS score""." 29980054 2018
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 GeneticVariation disease BEFREE We report a novel homozygous apolipoprotein A5 (APOA5) frameshift mutation (c.G425del-C, p.Arg143AlafsTer57) identified in a 12-year-old boy of Pakistani origin with severe hypertriglyceridemia (up to 35 mmol/L) and type V hyperlipoproteinemia. 27678447 2017
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 GermlineCausalMutation disease ORPHANET Chylomicronaemia--current diagnosis and future therapies. 25732519 2015
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 GeneticVariation disease BEFREE Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213 2005
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 Biomarker disease GENOMICS_ENGLAND Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213 2005
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 Biomarker disease CTD_human
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.720 CausalMutation disease CLINVAR
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.030 GeneticVariation disease BEFREE Dietary fat clearance in type V hyperlipoproteinaemia secondary to a rare variant of human apolipoprotein E: the apolipoprotein E3 (Arg 136-->Ser) 10911769 2000
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.030 Biomarker disease BEFREE The results suggest that apoE4 may be involved in the development of type V hyperlipoproteinemia. 3379342 1988
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.030 Biomarker disease BEFREE ApoE3 is considered the normal isoform, while apoE4 is associated both with hypercholesterolemia and type V hyperlipoproteinemia. 3745440 1986
Entrez Id: 4023
Gene Symbol: LPL
LPL 		0.010 GeneticVariation disease BEFREE Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. 16200213 2005