PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 GeneticVariation group BEFREE The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general population. 31504636 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 GeneticVariation group BEFREE This study was aimed to replicate the associations between three Perilipin Gene (PLIN) variants (rs894160, rs1052700, and rs2304796) and diabetes risks and to evaluate the overall effects of these variants on diabetes risk and obesity risk. 23517113 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.120 GeneticVariation disease BEFREE The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general population. 31504636 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 GeneticVariation group BEFREE Polymorphisms in PLIN and hypertension combined with obesity and lipid profiles in Han Chinese. 15601966 2004
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.110 GeneticVariation disease BEFREE Since obesity plays an important role in the etiology of PCOS, we sought to determine if variants in the perilipin gene (PLIN), a gene previously implicated in the development of obesity, were also associated with PCOS. 19782423 2009
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 GeneticVariation disease BEFREE Common variations in perilipin gene, central obesity, and risk of type 2 diabetes in US women. 18356850 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 GeneticVariation disease BEFREE These data suggest that genetic variations in the perilipin gene can affect weight gain associated with rosiglitazone treatment in patients with type 2 diabetes. 16732015 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 GeneticVariation disease BEFREE Polymorphisms in perilipin gene (PLIN) are not associated with obesity and weight variation in people with high risk of type 2 diabetes. 18777456 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 GeneticVariation disease BEFREE In addition, the carriers of AA variant in the PLIN rs894160 polymorphism had a higher risk to T2D than those with the combined AG+GG variants (adjusted odds ratio, 1.856; 95% confidence interval, 1.106-3.115) after adjustment of sex and body mass index. 23111648 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.040 GeneticVariation disease BEFREE Effects of perilipin (PLIN) gene variation on metabolic syndrome risk and weight loss in obese children and adolescents. 18812483 2008
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE This study was aimed to replicate the associations between three Perilipin Gene (PLIN) variants (rs894160, rs1052700, and rs2304796) and diabetes risks and to evaluate the overall effects of these variants on diabetes risk and obesity risk. 23517113 2013
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE The pathogenicity of other PLIN1 null variants identified in patients with diabetes and/or hyperinsulinemia was recently questioned because of the absence of lipodystrophy in these individuals and the elevated frequency of PLIN1 null variants in the general population. 31504636 2019
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation disease BEFREE We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes. 21345103 2011
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		0.020 GeneticVariation disease BEFREE Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistance. 30020498 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE We performed adipose tissue mRNA expression of proteins involved in triglyceride hydrolysis and correlated their weight loss induced alterations with systemic parameters associated with cardiovascular disease risk. mRNA transcripts of adipose triglyceride lipase (ATGL), hormone-sensitive lipase (HSL), and lipid droplet proteins comparative gene identification 58 (CGI-58) and perilipin increased significantly after weight loss (p < 0.05 for all). 26663986 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE The human perilipin gene (PLIN) is located to 15q26.1, near the susceptibility loci for obesity, and insulin-dependent diabetes mellitus, and hypertriglyceridemia. 18777456 2008
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 GeneticVariation group BEFREE No association of the PLIN variants with stroke (P>0.05) or with stroke subtypes (P>0.05) was found in the first study. 18174481 2008
CUI: C0079102
Disease: Cerebral Thrombosis
Cerebral Thrombosis 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		0.010 GeneticVariation disease BEFREE The sequences of CGI-58, the gene responsible for Chanarin-Dorfman syndrome (CDS), another multisystem triglyceride storage disease, and of two genes encoding lipid droplets-associated proteins, perilipin A and adipophilin, were normal. 20471263 2010
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008
CUI: C0795687
Disease: Cerebral arterial thrombosis
Cerebral arterial thrombosis 		0.010 GeneticVariation disease BEFREE Six PLIN tag single nucleotide polymorphisms (rs7176403, rs8179078, rs6496589, rs8179043, rs894160, rs1052700) were genotyped in 1571 patients with stroke (690 cerebral thrombosis, 429 lacunar infarction, 452 intracerebral hemorrhage) and 1638 control subjects. 18174481 2008