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: rs1023934247
rs1023934247
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE Typing for HLA-DQA1 and DQB1 alleles showed that type 1 diabetes-predisposing DQ alpha/DQ beta heterodimers were less frequent in patients carrying N252S or P477A than in those carrying wild-type PRF1. 18198357 2008
dbSNP: rs104894176
rs104894176
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894180
rs104894180
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894181
rs104894181
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		T 0.800 CausalMutation CLINVAR
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: 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: 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: 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: 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: 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: rs1060499556
rs1060499556
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 GeneticVariation 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
dbSNP: rs138126912
rs138126912
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.700 GeneticVariation CLINVAR Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. 21881043 2011
dbSNP: rs138126912
rs138126912
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.700 GeneticVariation CLINVAR Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. 24916509 2014
dbSNP: rs138126912
rs138126912
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		A 0.700 GeneticVariation CLINVAR Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 25937001 2015
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. 22437823 2012
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. 17873118 2008
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. 16860143 2006
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Familial haemophagocytic lymphohistiocytosis in twin infants. 23255033 2013
dbSNP: rs147035858
rs147035858
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. 14757862 2004
dbSNP: rs147462227
rs147462227
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. 23690113 2013
dbSNP: rs147462227
rs147462227
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		T 0.700 GeneticVariation CLINVAR Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. 21959744 2011