Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 966
Gene Symbol: CD59
CD59
0.500 Biomarker disease BEFREE The latter is used to delineate PNH Type III (total loss of CD59) and PNH Type II RBCs (partial loss of CD59) from normal (Type I) RBCs. 31705743 2020
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
0.010 Biomarker disease BEFREE We have added allophycocyanin (APC)-conjugated CD71 to the existing CD235aFITC/CD59PE RBC assay allowing simultaneous delineation and quantification of PNH Type III and Type II immature RBCs (iRBCs). 31705743 2020
Entrez Id: 929
Gene Symbol: CD14
CD14
0.060 Biomarker disease BEFREE FLAER and CD24 on granulocytes and FLAER and CD14 on monocytes respectively were used to screen the leucocytes for PNH by flowcytometry. 31701360 2019
Entrez Id: 100133941
Gene Symbol: CD24
CD24
0.030 Biomarker disease BEFREE FLAER and CD24 on granulocytes and FLAER and CD14 on monocytes respectively were used to screen the leucocytes for PNH by flowcytometry. 31701360 2019
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
0.430 GeneticVariation disease BEFREE The biochemistry and clinical manifestations indicate that these patients have subtle but important differences from those with PNH resulting from PIGA mutations, suggesting PIGT-PNH may be a distinct clinical entity. 31638602 2019
Entrez Id: 2821
Gene Symbol: GPI
GPI
0.100 Biomarker disease BEFREE Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency. 31638602 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.010 GeneticVariation disease BEFREE PNH clones were detected in 2% of patients and were more common in JAK2 V617F positive patients. 31601527 2019
Entrez Id: 929
Gene Symbol: CD14
CD14
0.060 AlteredExpression disease BEFREE Some monocytes in non-PNH patients had weak expression of CD14 but normal expression of FLAER. 31571381 2020
Entrez Id: 683
Gene Symbol: BST1
BST1
0.040 PosttranslationalModification disease BEFREE Moreover, the loss of CD157 expression in granulocytes and monocytes was commonly observed in non-PNH patients. 31571381 2020
Entrez Id: 100133941
Gene Symbol: CD24
CD24
0.030 Biomarker disease BEFREE We performed the first prospective exploration of the clinical usefulness of FLAER and CD157 in simultaneously recognizing PNH clones in granulocytes and monocytes and verified the applicability of CD157 in substitute for both CD14 and CD24. 31571381 2020
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
0.020 Biomarker disease BEFREE Detection of PNH and assessment of PNH clone size in RBC and WBC lineages by flow cytometric analysis has increased in importance due to the availability of novel therapies. 31522427 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 GeneticVariation disease BEFREE Mutations in the filamin A gene are frequent in familial cases with X-linked PNH. 31489630 2019
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 Biomarker disease BEFREE Thus, PIGT-PNH differs from PIGA-PNH both in the mechanism of clonal expansion and in clinical manifestations. 31430258 2019
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
0.430 Biomarker disease BEFREE Thus, PIGT-PNH differs from PIGA-PNH both in the mechanism of clonal expansion and in clinical manifestations. 31430258 2019
Entrez Id: 966
Gene Symbol: CD59
CD59
0.500 Biomarker disease BEFREE While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively. 31421540 2019
Entrez Id: 1604
Gene Symbol: CD55
CD55
0.100 Biomarker disease BEFREE While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively. 31421540 2019
Entrez Id: 22914
Gene Symbol: KLRK1
KLRK1
0.020 Biomarker disease BEFREE We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, and paroxysmal nocturnal hemoglobinuria. 31216534 2020
Entrez Id: 100528032
Gene Symbol: KLRC4-KLRK1
KLRC4-KLRK1
0.020 Biomarker disease BEFREE We therefore examined the relationship between soluble NKG2D ligands and blood cell counts in 86 patients with BFS, including aplastic anemia, myelodysplastic syndrome with single lineage dysplasia, and paroxysmal nocturnal hemoglobinuria. 31216534 2020
Entrez Id: 966
Gene Symbol: CD59
CD59
0.500 AlteredExpression disease BEFREE Detailed analysis of morphology, volume, and density of red blood cells with various CD59 expression levels from patients with PNH did not provide indications for a major aberration of the red blood cell aging process in patients with PNH. 31156458 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.050 AlteredExpression disease BEFREE Our data from paroxysmal nocturnal hemoglobinuria (PNH) patients confirmed the observation of decreased total neutrophil counts, but elevated numbers of activated neutrophils, including neutrophil-platelet aggregates, in parallel with elevated expression of TNFA, IL1B and IL6 genes in neutrophils, also increased levels of these cytokines along with MPO in circulation, and this correlated directly with elevated intravascular hemolysis (high free-Hb in plasma). 31099890 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.020 AlteredExpression disease BEFREE Our data from paroxysmal nocturnal hemoglobinuria (PNH) patients confirmed the observation of decreased total neutrophil counts, but elevated numbers of activated neutrophils, including neutrophil-platelet aggregates, in parallel with elevated expression of TNFA, IL1B and IL6 genes in neutrophils, also increased levels of these cytokines along with MPO in circulation, and this correlated directly with elevated intravascular hemolysis (high free-Hb in plasma). 31099890 2019
Entrez Id: 4353
Gene Symbol: MPO
MPO
0.010 AlteredExpression disease BEFREE Our data from paroxysmal nocturnal hemoglobinuria (PNH) patients confirmed the observation of decreased total neutrophil counts, but elevated numbers of activated neutrophils, including neutrophil-platelet aggregates, in parallel with elevated expression of TNFA, IL1B and IL6 genes in neutrophils, also increased levels of these cytokines along with MPO in circulation, and this correlated directly with elevated intravascular hemolysis (high free-Hb in plasma). 31099890 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 AlteredExpression disease BEFREE Our data from paroxysmal nocturnal hemoglobinuria (PNH) patients confirmed the observation of decreased total neutrophil counts, but elevated numbers of activated neutrophils, including neutrophil-platelet aggregates, in parallel with elevated expression of TNFA, IL1B and IL6 genes in neutrophils, also increased levels of these cytokines along with MPO in circulation, and this correlated directly with elevated intravascular hemolysis (high free-Hb in plasma). 31099890 2019
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Various gene mutations, including the phosphatidylinositol glycan anchor biosynthesis class A (PIG-A) gene, may contribute to the proliferation of PNH clones. 31086586 2019
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
0.010 AlteredExpression disease BEFREE In conclusion, mutations and abnormal expression of the RBPJ gene may participate in the abnormal proliferation of PNH clones. 31086586 2019