Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 CausalMutation disease CLINVAR
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 SomaticCausalMutation disease ORPHANET
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
0.490 CausalMutation disease CGI
Entrez Id: 4352
Gene Symbol: MPL
MPL
0.400 SomaticCausalMutation disease ORPHANET
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
0.320 CausalMutation disease CGI
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.040 GeneticVariation disease BEFREE In previous studies of two patients with polycythemia vera (PV) and heterozygous at the X-linked locus for glucose-6-phosphate dehydrogenase (G-6-PD), only type A isoenzyme was found in non-lymphoid hematopoietic cells. 500813 1979
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.040 GeneticVariation disease BEFREE Two women with polycythemia vera and heterozygosity (GdB/GdA) at the X-chromosome-linked locus for glucose-6-phosphate dehydrogenase were studied to determine the nature of the cellular origin of their polycythemia. 967201 1976
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE To search for EPO-receptor changes as a possible pathophysiologic mechanism, we examined, by Southern blot analysis, genomic DNA samples from affected and nonaffected family members, as well as three patients with PV. 1316790 1992
Entrez Id: 3039
Gene Symbol: HBA1
HBA1
0.300 Biomarker disease CTD_human Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. 1634355 1992
Entrez Id: 79139
Gene Symbol: DERL1
DERL1
0.010 Biomarker disease BEFREE der(1)t(1;9): a specific chromosome abnormality in polycythemia vera? Cytogenetic and in situ hybridization studies. 2758394 1989
Entrez Id: 3043
Gene Symbol: HBB
HBB
0.300 Biomarker disease CTD_human Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia. 5773089 1969
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
0.010 GeneticVariation disease BEFREE Twenty-one Israeli Jewish pemphigus vulgaris (PV) patients were studied for the HLA-D lymphocyte defined determinants and the serologically defined antigens of the HLA-A, B, and DR series. 6199866 1984
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.040 AlteredExpression disease BEFREE Polycythaemia rubra vera (PRV) was diagnosed in a 69-year-old Nigerian woman whose haemolysate revealed an electrophoretically slow-moving homogeneous band of the enzyme glucose 6-phosphate dehydrogenase (G6PD). 6414209 1983
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
0.010 Biomarker disease BEFREE A subdivision of ANLL into two categories occurring in the course of PV is proposed from the clinical, hematologic, and cytogenetic data: one resembling de novo ANLL with rapid initial evolution, easy classification into one group of the FAB nomenclature, and simple chromosome abnormalities; the other resembling induced leukemia, often with more progressive initial evolution, difficulty or impossibility of classification into one group of the FAB nomenclature, and complex chromosome abnormalities. 6704942 1984
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker disease BEFREE These findings indicate that primitive BFU-E in patients with PV can be subdivided into 2 populations: a minor population restricted to the production of erythroid colony-forming cells (Ep-dependent progenitors) that require Ep for their detection, and a major population that is not restricted in this way. 6831048 1983
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
0.040 Biomarker disease BEFREE When marrow cells were separated by velocity sedimentation at unit gravity, most PV clonal granulocyte-macrophage progenitors (CFU-C) (type A G6PD) sedimented between 6.4 and 7.2 mm/h, whereas most residual normal, type B CFU-C sedimented less than or equal to 5.9 mm/h (P = 0.04)., When blood cells were separated over a discontinuous buoyant density gradient, PV clonal CFU-C equilibrated at densities < 1.065 g/ml, whereas residual normal CFU-C were found greater than or equal to 1.065 g/ml (P < 0.01). 6932405 1980
Entrez Id: 667
Gene Symbol: DST
DST
0.010 Biomarker disease BEFREE To develop a new method to evaluate autoantibodies in various autoimmune bullous skin diseases, we examined reactivity of bullous pemphigoid (BP) and pemphigus vulgaris (PV) patients' sera with partial bacterial fusion proteins of the 230 kD BP antigen (BPAG1) and PV antigen, respectively, by an enzyme-linked immunosorbent assay (ELISA), and compared the results with those of immunoblotting. 7543794 1995
Entrez Id: 6776
Gene Symbol: STAT5A
STAT5A
0.070 Biomarker disease BEFREE MGF was the most potent single factor in PV, while GM-CSF was most effective in idiopathic myelofibrosis and both IL-3 and GM-CSF in CML. 7589339 1995
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.030 Biomarker disease BEFREE MGF was the most potent single factor in PV, while GM-CSF was most effective in idiopathic myelofibrosis and both IL-3 and GM-CSF in CML. 7589339 1995
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
0.010 Biomarker disease BEFREE MGF was the most potent single factor in PV, while GM-CSF was most effective in idiopathic myelofibrosis and both IL-3 and GM-CSF in CML. 7589339 1995
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.100 AlteredExpression disease BEFREE As expected, EPO serum levels were low and no detectable level of EPO mRNA was found by reverse polymerase chain reaction (RT-PCR) in the peripheral blood mononuclear cells of our PV patients. 7819104 1994
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
0.080 Biomarker disease BEFREE These data suggest that the mechanisms for the development of PV do not involve structural changes of the EPO-R gene. 7819104 1994
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.020 GeneticVariation disease BEFREE We performed HLA-DQA1, -DQB1 and -DRB1 genotyping using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method for 32 Japanese pemphigus vulgaris (PV) patients. 7871526 1994
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.020 GeneticVariation disease BEFREE We performed HLA-DQA1, -DQB1 and -DRB1 genotyping using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method for 32 Japanese pemphigus vulgaris (PV) patients. 7871526 1994
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
0.100 Biomarker disease BEFREE Interferon alpha (alpha-IFN) is increasingly used for the treatment of patients affected by polycythemia vera (PV). 8018766 1994