PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation disease BEFREE Our results suggest that mutations in PRF1 may play a role in the pathogenesis of B-ALL. 20638125 2011
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 Biomarker disease BEFREE Activation of endothelial cells with APL significantly increased thrombin generation triggered by PFP. 30031291 2018
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.010 AlteredExpression disease BEFREE Compared with healthy controls, 19 of the 68 genes were found modulated in patients with AI at baseline, 18 of which were restored to control levels 12 weeks after therapy was switched: ARNTL [BMAL] (P = 0.024), CLOCK (P = 0.016), AANAT (P = 0.021), CREB1 (P = 0.010), CREB3 (P = 0.037), MAT2A (P = 0.013); PRKAR1A, PRKAR2A, and PRKCB (all P < 0.010) and PER3, TIMELESS, CAMK2D, MAPK1, SP1, WEE1, CSNK1A1, ONP3, and PRF1 (all P < 0.001). 29846607 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.010 AlteredExpression phenotype BEFREE Compared with healthy controls, 19 of the 68 genes were found modulated in patients with AI at baseline, 18 of which were restored to control levels 12 weeks after therapy was switched: ARNTL [BMAL] (P = 0.024), CLOCK (P = 0.016), AANAT (P = 0.021), CREB1 (P = 0.010), CREB3 (P = 0.037), MAT2A (P = 0.013); PRKAR1A, PRKAR2A, and PRKCB (all P < 0.010) and PER3, TIMELESS, CAMK2D, MAPK1, SP1, WEE1, CSNK1A1, ONP3, and PRF1 (all P < 0.001). 29846607 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE Our results suggest that mutations in PRF1 may play a role in the pathogenesis of B-ALL. 20638125 2011
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
CUI: C0151603
Disease: Anasarca
Anasarca 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.010 AlteredExpression disease LHGDN CD8 T lymphocytes do not express cytotoxic proteins in coronary artery aneurysms in acute Kawasaki disease. 15818305 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 Biomarker disease CTD_human
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 CausalMutation disease CLINVAR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.400 Biomarker disease HPO
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic 		0.300 SusceptibilityMutation disease ORPHANET Perforin gene mutations in patients with acquired aplastic anemia. 17311987 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.200 Biomarker disease RGD [Expression of perforin and granzyme B in asthmatic rats and intervention of recombinant human growth hormone]. 21426642 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		0.010 Biomarker disease BEFREE Activation of endothelial cells with APL significantly increased thrombin generation triggered by PFP. 30031291 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Altered gene expression and function of peripheral blood natural killer cells in children with autism. 18762240 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 GeneticVariation group BEFREE Rare variations of PRF1 predispose to autoimmunity. 25354579 2015
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.020 GeneticVariation disease BEFREE A 27-year-old man with the autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma had heterozygous mutations in the Fas and perforin (Prf1) genes. 15459303 2004
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.020 GeneticVariation disease 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: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation group BEFREE A 27-year-old man with the autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma had heterozygous mutations in the Fas and perforin (Prf1) genes. 15459303 2004
CUI: C0004610
Disease: Bacteremia
Bacteremia 		0.010 Biomarker disease BEFREE The lack of enrichment for asa1 or cylA among clonally unrelated E. faecalis bloodstream isolates fails to support a role for plasmid-encoded aggregation substance or cytolysin in the transition from bacteremia to endocarditis. 8559804 1995
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.010 Biomarker group BEFREE Here, we demonstrate that biomimetic nanosponges neutralize cytolysin, protect the retina, preserve vision, and may provide an adjunct detoxification therapy for bacterial infections. 29202038 2019
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		0.010 Biomarker disease BEFREE Functional reconstitution of the cholesterol-dependent cytolysin vaginolysin (VLY) from Gardnerella vaginalis into artificial tethered bilayer membranes (tBLMs) has been accomplished. 24349307 2013