Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	C0272199	PRF1	Unknown	—	Disgenet
		STX11	Unknown	—	Disgenet
		STXBP2	Unknown	—	Disgenet
		UNC13D	Unknown	—	Disgenet
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS	540	PRF1	Causal	11179007	Orphanet
		STX11	Causal	11179007	Orphanet
		STXBP2	Causal	11179007	Orphanet
		UNC13D	Causal	11179007	Orphanet
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 2	MONDO:0011337	PRF1	Causal	10583959 15365097 15741215 23715323 7972104	ClinGen ClinVar GenCC
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 3	MONDO:0012146	UNC13D	Causal	33974137	ClinGen ClinVar GenCC
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 4	MONDO:0011336	STX11	Causal	16582076 17525286 19967551 20486178 21298754 23160464 24459464 26709266 28265073 31207086 31770233	CTD ClinGen ClinVar
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS 5	MONDO:0013135	STXBP2	Causal	—	ClinGen ClinVar GenCC
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS DUE TO RHOG DEFICIENCY	MONDO:0800147	RHOG	Unknown	33513601 4701744	ClinGen GWAS catalog
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	C4551514	FHL1	Unknown	—	Disgenet
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	C4551514	PRF1	Unknown	—	Disgenet
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	603553 C1863727 MESH:C537250	PRF1	Unknown	—	CTD Disgenet HPO
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	608898 C1837174 MESH:C537251	UNC13D	Unknown	—	CTD Disgenet HPO
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4	603552 C1863728 MESH:C537252	STX11	Unknown	—	CTD Disgenet HPO
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	C2751293 MESH:C567752	STXBP2	Unknown	—	CTD Disgenet
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITH OR WITHOUT MICROVILLUS INCLUSION DISEASE	613101	STXBP2	Unknown	—	HPO
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6	MONDO:0033557	RC3H1	Causal	15917799 21844204 24889358 31636267	ClinVar HPO
LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC	C0024291 MESH:D051359	HAVCR2	Unknown	30374066	CTD Disgenet

Hemophagocytic lymphohistiocytosis