Disease: HYPERLIPOPROTEINEMIA, TYPE ID ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GermlineCausalMutation disease ORPHANET "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an ""FCS score""." 29980054 2018
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene. 27578123 2017
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding. 25387803 2015
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GermlineCausalMutation disease ORPHANET Chylomicronaemia--current diagnosis and future therapies. 25732519 2015
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 CausalMutation disease CLINVAR Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 24614124 2014
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD. 23831619 2013
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 22239554 2012
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 CausalMutation disease CLINVAR GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation. 21314738 2011
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 20026666 2010
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 CausalMutation disease CLINVAR Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 20124439 2010
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 GeneticVariation disease UNIPROT Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 CausalMutation disease CLINVAR Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 Biomarker disease CTD_human
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
HYPERLIPOPROTEINEMIA, TYPE ID 		0.700 Biomarker disease GENOMICS_ENGLAND