PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Adult Lymphoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 GeneticVariation disease BEFREE Our findings substantiate and expand the spectrum of clinical presentations of perforin deficiency, linking PRF1 missense mutations to lymphoma susceptibility and highlighting clinical variability within families. 26184781 2015