rs104894181, PRF1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
0.800 CausalMutation CLINVAR