APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
Disease: Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489395
Disease: Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial 		0.500 Biomarker disease CTD_human
CUI: C3489395
Disease: Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial 		0.500 GermlineCausalMutation disease ORPHANET Chylomicronaemia--current diagnosis and future therapies. 25732519 2015
CUI: C3489395
Disease: Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial 		0.500 GermlineCausalMutation disease ORPHANET "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ""FCS score""." 29980054 2018