ANGPTL3, angiopoietin like 3, 27329

N. diseases: 81; N. variants: 13
Disease: Familial hypobetalipoproteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.040 GeneticVariation disease BEFREE The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene. 28733173 2018
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.040 GeneticVariation disease BEFREE Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). 27804036 2017
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.040 GeneticVariation disease BEFREE A novel mutation Y344S was found in ANGPTL3 gene in two diabetic patients with familial hypobetalipoproteinemia. 25733326 2015
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		0.040 GeneticVariation disease BEFREE We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. 22155345 2012