Disease: Familial Hemophagocytic Lymphocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.020 Biomarker phenotype BEFREE We carried out mutation analysis of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no clinical evidence of pigment dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D). 25312756 2015
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.020 Biomarker phenotype BEFREE We conclude that mutations in SRGN, ARF6, and AP3B1 are not likely to be common in patients fulfilling the FHL criteria. 18000860 2008