Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.060 Biomarker BEFREE In order to obtain indications about the structural modifications induced by alfa-IFN in ET megakaryocytes (Mks), Fourier-transform infra-red microspectroscopy analysis performed on 10 single Mks of each patient, was done in seven of 11 patients; the analysis showed a reduction of A1/A2 ratios (A1 integrated area of the band at 1080 cm(-1) due to the nucleic acids absorption; A2 integrated area of the band at 1540 cm(-1) due to proteic components absorption) in five cases, and in three of these five patients A1/A2 ratios achieved normal values. 9529121

1998

Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.060 Biomarker BEFREE In order to obtain indications about the structural modifications induced by alfa-IFN in ET megakaryocytes (Mks), Fourier-transform infra-red microspectroscopy analysis performed on 10 single Mks of each patient, was done in seven of 11 patients; the analysis showed a reduction of A1/A2 ratios (A1 integrated area of the band at 1080 cm(-1) due to the nucleic acids absorption; A2 integrated area of the band at 1540 cm(-1) due to proteic components absorption) in five cases, and in three of these five patients A1/A2 ratios achieved normal values. 9529121

1998

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.400 Biomarker BEFREE We examined the expression of c-mpl, a receptor of thrombopoietin (TPO), and its signaling molecules in a patient with ET. 9658438

1998

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.400 Biomarker BEFREE In this study, we investigated whether Mpl-L was responsible for the pathogenesis of ET and PMF. 9864154

1999

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.400 Biomarker BEFREE Although activating mutation in the TPO gene, which leads to overexpression of TPO mRNA, has been reported in familial thrombocythemia, these results suggest that TPO-c-Mpl system may not be directly linked to pathogenesis of sporadic ET. 10037033

1999

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression BEFREE We also report preliminary results of our attempt to examine concordance or discordance of BCR-ABL expression in the peripheral blood and bone marrow of Ph-neg ET patients. 10194123

1999

Entrez Id: 3053
Gene Symbol: SERPIND1
SERPIND1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE This article addresses the issue of thromboembolic disorders associated with the prothrombin G20210A gene mutation, with heparin cofactor II (HC-II) defects and with primary (essential) thrombocythemia. 10548071

1999

Entrez Id: 6403
Gene Symbol: SELP
SELP
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.040 AlteredExpression BEFREE Compared with asymptomatic ET patients there was no difference in the expression of CD62p (18.3+/-16.2% vs. 14.5+/-13.4%) and TSP (14.4+/-9.8% vs. 12.8+/-9.5%) in symptomatic ET patients. 10588461

1999

Entrez Id: 947
Gene Symbol: CD34
CD34
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker BEFREE Increased numbers of c-Mpl positive CD34 positive cells were found in only one of four patients with PTH, whereas in PV and CMGM the numbers of c-Mpl positive CD34 positive cells did not exceed normal values, despite thrombocythaemic cell counts. 10621836

1999

Entrez Id: 57126
Gene Symbol: CD177
CD177
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression BEFREE Moreover, PRV-1 is not expressed in mononuclear cells from patients with chronic myelogenous leukemia (n = 4) or acute myelogenous leukemia (n = 5) or in granulocytes from patients with essential thrombocythemia (n = 4) or secondary erythrocytosis (n = 4). 10753836

2000

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.500 Biomarker BEFREE The platelet thrombopoietin receptor number and function are markedly decreased in patients with essential thrombocythaemia. 11122159

2000

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.400 Biomarker BEFREE These results also suggest that the thrombocytosis in ET may be attributed to an alteration of the normal feedback interaction between TPO and its receptor and not as a result of any defect in the structure of TPO or c-mpl. 11122159

2000

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.050 GeneticVariation BEFREE Clonality analysis using X-chromosome inactivation patterns by HUMARA-PCR assay in female controls and patients with idiopathic thrombocytosis in Taiwan. 11166459

2001

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker BEFREE BCR-ABL positive essential thrombocythaemia: a variant of chronic myelogerous leukaemia or a distinct clinical entity: a special case report. 11296785

2000

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker BEFREE Our results confirm the absence of BCR-ABL abnormalities in Ph-negative ET patients. 11342314

2000

Entrez Id: 2125
Gene Symbol: EVPL
EVPL
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.020 Biomarker BEFREE None of them showed any of the BCR-ABL transcript actually described by others in ET; neither the "classical" P210 nor the P190 or P230 variants. 11342314

2000

Entrez Id: 102157402
Gene Symbol: AK6
AK6
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 Biomarker BEFREE Clonal analysis of hemopoiesis using X-CIP was performed in 40 female patients with ET. 11378261

2001

Entrez Id: 90523
Gene Symbol: MLIP
MLIP
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 Biomarker BEFREE Clonal analysis of hemopoiesis using X-CIP was performed in 40 female patients with ET. 11378261

2001

Entrez Id: 1109
Gene Symbol: AKR1C4
AKR1C4
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE A further two patients with myelofibrosis secondary to polycythaemia vera and essential thrombocythaemia with reciprocal 13q translocations were studied in an attempt to further define the CDR. 11380400

2001

Entrez Id: 1038
Gene Symbol: CDR1
CDR1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE A further two patients with myelofibrosis secondary to polycythaemia vera and essential thrombocythaemia with reciprocal 13q translocations were studied in an attempt to further define the CDR. 11380400

2001

Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE A further two patients with myelofibrosis secondary to polycythaemia vera and essential thrombocythaemia with reciprocal 13q translocations were studied in an attempt to further define the CDR. 11380400

2001

Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the need for larger population studies of HFE mutations in patients with hematologic diseases. 11836162

2002

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.400 AlteredExpression BEFREE These results demonstrate that mutations in the 5' UTR of the TPO gene are not the cause of the normal or elevated TPO levels in acquired ET. 11860444

2001

Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 AlteredExpression BEFREE Increased expression of CD11b/CD18 adhesion was obtained in PV and ET patients (p < 0.05 and p < 0.001). 12145463

2002

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.050 GeneticVariation BEFREE We used the human androgen receptor gene (HUMARA)-polymerase chain reaction assay to investigate X-chromosome inactivation patterns (XCIPs) and their value in predicting vascular complications in 89 female patients with ET. 12176877

2002