Hemophagocytic lymphohistiocytosis | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	C0272199	PRF1	Unknown	—	Disgenet	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus +4 more
		STX11	Unknown	—	Disgenet	SNARE interactions in vesicular transport
		STXBP2	Unknown	—	Disgenet	Platelet degranulation Other interleukin signaling
		UNC13D	Unknown	—	Disgenet	Neutrophil degranulation
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS	540	PRF1	Causal	11179007	Orphanet	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus +4 more
		STX11	Causal	11179007	Orphanet	SNARE interactions in vesicular transport
		STXBP2	Causal	11179007	Orphanet	Platelet degranulation Other interleukin signaling
		UNC13D	Causal	11179007	Orphanet	Neutrophil degranulation
familial hemophagocytic lymphohistiocytosis 2	MONDO:0011337	PRF1	Causal	10583959 15365097 15741215 23715323 7972104	ClinGen, ClinVar, GenCC	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus +4 more
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 3	MONDO:0012146	UNC13D	Causal	33974137	ClinGen, ClinVar, GenCC	Neutrophil degranulation
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 4	MONDO:0011336	STX11	Causal	16582076 17525286 19967551 20486178 21298754 23160464 24459464 26709266 28265073 31207086 31770233	CTD, ClinGen, ClinVar	SNARE interactions in vesicular transport
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 5	MONDO:0013135	STXBP2	Causal	—	ClinGen, ClinVar, GenCC	Platelet degranulation Other interleukin signaling
hemophagocytic lymphohistiocytosis due to RhoG deficiency	MONDO:0800147	RHOG	Unknown	33513601 4701744	ClinGen, GWAS catalog	Bacterial invasion of epithelial cells Salmonella infection Yersinia infection +7 more
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	C4551514	FHL1	Unknown	—	Disgenet	JAK-STAT signaling pathway Cytoskeleton in muscle cells
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	C4551514	PRF1	Unknown	—	Disgenet	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus +4 more
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	603553 C1863727 MESH:C537250	PRF1	Unknown	—	CTD, Disgenet, HPO	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus +4 more
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	608898 C1837174 MESH:C537251	UNC13D	Unknown	—	CTD, Disgenet, HPO	Neutrophil degranulation
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4	603552 C1863728 MESH:C537252	STX11	Unknown	—	CTD, Disgenet, HPO	SNARE interactions in vesicular transport
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	C2751293 MESH:C567752	STXBP2	Unknown	—	CTD, Disgenet	Platelet degranulation Other interleukin signaling
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE	613101	STXBP2	Unknown	—	HPO	Platelet degranulation Other interleukin signaling
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6	MONDO:0033557	RC3H1	Causal	15917799 21844204 24889358 31636267	ClinVar, HPO	—
LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC	C0024291 MESH:D051359	HAVCR2	Unknown	30374066	CTD, Disgenet	Efferocytosis