PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Systemic onset juvenile chronic arthritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.020 GeneticVariation disease BEFREE We detected a previously undescribed sequence variation (-499 C > T) in the promoter of PRF1 in 18% of the SoJIA patients. 20019066 2010
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.020 GeneticVariation disease BEFREE To investigate whether single-nucleotide polymorphisms (SNPs) within the genes PRF1, GZMB, UNC13D, and Rab27a, which are involved in natural killer cell dysfunction and known to contribute to the risk of hemophagocytic lymphohistiocytosis (HLH), confer an increased risk of susceptibility to systemic-onset juvenile idiopathic arthritis (JIA). 18311812 2008