Hemophagocytic Lymphohistiocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (Human Disease Ontology, DOID_0050120)
External Link https://www.disgenet.org/browser/0/1/0/C1837174
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Genes

16 genes associated with the disease Hemophagocytic Lymphohistiocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
BCR breakpoint cluster region
EMD emerin
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
GNLY granulysin
HAVCR2 hepatitis A virus cellular receptor 2
IL2 interleukin 2
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MTOR mechanistic target of rapamycin (serine/threonine kinase)
PDLIM5 PDZ and LIM domain 5
PRF1 perforin 1 (pore forming protein)
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
UNC13D unc-13 homolog D (C. elegans)