PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Lymphoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 GeneticVariation group 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
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 GeneticVariation group BEFREE Mutations of its gene, PRF1, cause familial hemophagocytic lymphohistiocytosis but have also been associated with lymphomas and the autoimmune/lymphoproliferative syndrome. 18198357 2008
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 Biomarker group GENOMICS_ENGLAND
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 CausalMutation group CGI
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.620 Biomarker group HPO