PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Predominant Neurologic Manifestations Seen in a Patient With a Biallelic Perforin1 Mutation (PRF1; p.R225W). 27271812 2017
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis. 26684649 2015
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. 23443029 2013
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis. 21234777 2011
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 17873118 2008
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. 16374518 2006
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 14757862 2004
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene. 15365097 2004
dbSNP: rs104894181
rs104894181
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs104894182
rs104894182
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs28933374
rs28933374
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. 11565555 2001
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs104894181
rs104894181
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs104894182
rs104894182
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs28933374
rs28933374
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs28933973
rs28933973
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs104894181
rs104894181
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894182
rs104894182
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28933374
rs28933374
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs138126912
rs138126912
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.700 GeneticVariation CLINVAR Primary lymphoma of the brain in a young man whose brother died of hemophagocytic lymphohistiocytosis: case report. 25845254 2017