LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Acute recurrent pancreatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.030 GeneticVariation disease BEFREE Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis. 29921298 2018
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.030 GeneticVariation disease BEFREE Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis. 28548960 2017
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.030 GeneticVariation disease BEFREE Although both brothers had recurrent acute pancreatitis and the same LPL genotype, CP became evident in only one patient. 16552344 2006