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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0271693
Disease: Acquired generalized lipodystrophy
Acquired generalized lipodystrophy 		0.010 Biomarker disease BEFREE Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. 30283460 2018
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		0.030 Biomarker disease BEFREE It was identified that PLIN1 serves a crucial role in the pathogenesis and progression of liposarcoma and may be a potential therapeutic target for its clinical management. 30221658 2018
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		0.030 AlteredExpression disease BEFREE Perilipin 1 expression increased with adipocytic differentiation of liposarcoma subtypes showing statistical significance (p < 0.001). 27646609 2017
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		0.030 AlteredExpression disease BEFREE In addition, long-term stimulation of adipogenesis in the liposarcoma cell line LiSa-2 restored perilipin 1 expression, as exhibited in the source tumor. 31125552 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		0.010 AlteredExpression disease BEFREE Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma. 31125552 2019
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.010 Biomarker disease BEFREE Compared to CNT women and to men, and controlling for age, PERI and MENO groups exhibited increased indicators of AD endophenotype, including hypometabolism, increased Aβ deposition, and reduced gray and white matter volumes in AD-vulnerable regions (<i>p</i> < 0.001). 28855400 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE To clarify the role of PLIN1 in the pathophysiology of atherosclerosis, we assessed the progression of atherosclerosis in PLIN1 transgenic mice (Plin1Tg). 29407594 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE Accumulated evidence have indicated the role of Plin1 in atherosclerosis, however, these findings are controversial. 25855981 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 Biomarker disease BEFREE Accumulated evidence have indicated the role of Plin1 in atherosclerosis, however, these findings are controversial. 25855981 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 Biomarker disease BEFREE To clarify the role of PLIN1 in the pathophysiology of atherosclerosis, we assessed the progression of atherosclerosis in PLIN1 transgenic mice (Plin1Tg). 29407594 2018
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		0.010 Biomarker disease BEFREE PPARγ, C/EBPα, adipophilin, and perilipin were found in each type of LS. 25650275 2015
CUI: C0006625
Disease: Cachexia
Cachexia 		0.010 AlteredExpression phenotype BEFREE Lipases and lipid droplet-associated protein expression in subcutaneous white adipose tissue of cachectic patients with cancer. 28830524 2017
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		0.010 AlteredExpression disease BEFREE We found augmented lipolysis in CC associated with increased HSL expression, as well as upregulation of ATGL expression and reduction in perilipin 1 content. 28830524 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 Biomarker disease BEFREE Immunohistochemical staining for lipid metabolism-related proteins [fatty acid synthase (FASN), hormone-sensitive lipase (HSL), carnitine palmitoyltransferase IA (CPT-1A), acyl-CoA oxidase 1 (ACOX1), fatty acid binding protein 4 (FABP4,) and perilipin 1 (PLIN1)] was performed using a tissue microarray of 149 cases of metastatic breast cancer (bone metastasis = 39, brain metastasis = 37, liver metastasis = 21, and lung metastasis = 52). 26334757 2015
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 Biomarker disease BEFREE Among all invasive cancers, HSL and FABP4 were highly expressed in luminal A-type ILC (<i>p</i> < 0.001) and perilipin A in luminal A-type IDC (<i>p</i> = 0.007). 28124996 2017
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: 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
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: 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: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		0.030 AlteredExpression disease BEFREE Perilipin 1 expression increased with adipocytic differentiation of liposarcoma subtypes showing statistical significance (p < 0.001). 27646609 2017
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		0.030 AlteredExpression disease BEFREE In addition, long-term stimulation of adipogenesis in the liposarcoma cell line LiSa-2 restored perilipin 1 expression, as exhibited in the source tumor. 31125552 2019
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		0.030 Biomarker disease BEFREE It was identified that PLIN1 serves a crucial role in the pathogenesis and progression of liposarcoma and may be a potential therapeutic target for its clinical management. 30221658 2018
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		0.010 AlteredExpression disease BEFREE Perilipin 1 Expression Differentiates Liposarcoma from Other Types of Soft Tissue Sarcoma. 31125552 2019