Hemophagocytic lymphohistiocytosis

Disease Term Disease ID Gene Symbol Classification References Source
Familial hemophagocytic lymphohistiocytosis 540 PRF1 Causal Pathogenic evidence from ClinVar - ClinVar
STX11 Causal Pathogenic evidence from ClinVar - ClinVar
STXBP2 Causal Pathogenic evidence from ClinVar - ClinVar
UNC13D Causal Pathogenic evidence from ClinVar - ClinVar
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 C1863727 PRF1 Causal Pathogenic evidence from ClinVar 2618478, 10583959, 11179007, 11565555, 14757862, 15365097, 15632205, 15728124, 16278825, 16374518, 16860143, 17266056, 17873118, 18074390, 19487666, 20092789, 21152410, 21234777, 21881043, 21959744, 22437823, 23255033, 23443029, 24916509, 25233452, 25297583, 25845254, 25937001, 26684649, 26903364, 27271812 ClinVar
LIFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14740318 -
Hemophagocytic lymphohistiocytosis, familial, 4 C1863728 STX11 Causal Pathogenic evidence from ClinVar 26176172 ClinVar
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 C2751293 STXBP2 Causal Pathogenic evidence from ClinVar 19804848, 19884660, 20558610, 20798128, 20823128, 22451424, 23382066, 23687090, 24194549, 24827398, 27577878, 28353193 ClinVar
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 C1837174 UNC13D Causal Pathogenic evidence from ClinVar 14622600, 15703195, 16278825, 16825436, 17993578, 18492689, 19484379, 19704116, 20823128, 21152410, 21248318, 21674762, 21755595, 21931115, 23180437, 23669735, 24139496, 24470399, 24825797, 24842371, 24935083, 25553300, 25573973, 26342526 ClinVar
Hemophagocytic Lymphohistiocytosis, Familial, 1 C4551514 HAVCR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30374066 -
HPLH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -