rs587777642, GPIHBP1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
0.700 CausalMutation CLINVAR Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 24614124 2014
Colitis
CUI: C0009319
Disease: Colitis
0.700 CausalMutation CLINVAR Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 24614124 2014
HYPERLIPOPROTEINEMIA, TYPE ID
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
0.700 CausalMutation CLINVAR Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 24614124 2014
HYPERLIPOPROTEINEMIA, TYPE ID
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
0.700 CausalMutation CLINVAR GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
0.700 CausalMutation CLINVAR GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
Colitis
CUI: C0009319
Disease: Colitis
0.700 CausalMutation CLINVAR GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
HYPERLIPOPROTEINEMIA, TYPE ID
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
0.700 CausalMutation CLINVAR Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 20124439 2010
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
0.700 CausalMutation CLINVAR Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 20124439 2010
Colitis
CUI: C0009319
Disease: Colitis
0.700 CausalMutation CLINVAR Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 20124439 2010
Serum triglycerides increased
CUI: C0813230
Disease: Serum triglycerides increased
0.700 CausalMutation CLINVAR Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009
Colitis
CUI: C0009319
Disease: Colitis
0.700 CausalMutation CLINVAR Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009
HYPERLIPOPROTEINEMIA, TYPE ID
CUI: C4014767
Disease: HYPERLIPOPROTEINEMIA, TYPE ID
0.700 CausalMutation CLINVAR Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009