Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1 		0.100 CausalMutation phenotype CLINVAR Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 24614124 2014
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1 		0.100 CausalMutation phenotype CLINVAR GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 21816778 2011
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1 		0.100 CausalMutation phenotype CLINVAR Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 20124439 2010
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1 		0.100 CausalMutation phenotype CLINVAR Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 19304573 2009
Entrez Id: 5551
Gene Symbol: PRF1
PRF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 116519
Gene Symbol: APOA5
APOA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		0.100 CausalMutation phenotype CLINVAR