PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Disease: Partial lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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