| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | disease | BEFREE | A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome. | 29452893 | 2019 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene. | 27578123 | 2017 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Recently, loss-of-function mutations of GPIHBP1 have been reported as the cause of type I hyperlipoproteinemia in several patients. | 26892125 | 2016 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1. | 25499947 | 2015 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | GPIHBP1 missense mutations that interfere with LPL binding cause familial chylomicronemia. | 25387803 | 2015 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Altered coding sequence variants in APOC2, APOA5 or GPIHBP-1 can also cause familial chylomicronemia. | 24291057 | 2014 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. | 24847059 | 2014 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | We herein present a case of LPL deficiency due to novel combined mutations of glycosylphosphatidylinositol (GPI)-anchored high-density lipoprotein (HDL)-binding protein 1 (GPIHBP1) in a patient with coronary artery disease (CAD). | 23831619 | 2013 | ||||
|
0.100 | Biomarker | disease | BEFREE | The emergence of hyperchylomicronemia in the generation after a neomutation further establishes a critical role for GPIHBP1 in TGRL physiopathology in humans. | 21816778 | 2011 | ||||
|
0.100 | Biomarker | disease | BEFREE | Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. | 20026666 | 2010 |