Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE The c3-a2 type of BCR/ABL junction seems to be associated with elevated platelet count and thus could form a novel clinical entity different from typical CML. 8759898

1996

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 Biomarker BEFREE This case highlights the need to include BCR/ABL1 fusion testing to accurately diagnose pediatric patients presenting with isolated thrombocytosis. 29187020

2019

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE There is controversy over the proper classification of thrombocytosis associated with the pathological BCR-ABL gene rearrangement; such cases are not clearly distinguishable from chronic myelogenous leukemia (CML) and should be provisionally classified as CML. 12187022

2002

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE This long-sought common mutation in BCR/ABL1-negative MPD raises many provocative biological and clinical questions, and demands re-evaluation of prevailing diagnostic algorithms for erythrocytosis and thrombocytosis. 16321848

2006

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE In agreement with published data, our results showed association of the BCR-ABL1 transcript e14a2 with thrombocytosis and the BCR-ABL1 transcript e13a2 with higher leukocytosis in patients with chronic myeloid leukemia. 28437552

2017

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE Among 84 consecutive patients with chronic phase Ph-positive chronic myeloid leukemia (CML) who were investigated for the hybrid BCR/ABL mRNA, in six cases (7%) the disease mimicked essential thrombocythemia (ET) at presentation, because of marked thrombocytosis (platelet counts ranging from 1003 x 10(9)/l to 2800 x 10(9)/l) and moderate leukocytosis (WBC counts from 10 x 10(9)/l to 19 x 10(9)/l). 8684009

1996

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.170 GeneticVariation BEFREE A novel BCR-ABL rearrangement in a Philadelphia chromosome-positive chronic myelogenous leukaemia variant with thrombocythaemia. 9519786

1998

Entrez Id: 11093
Gene Symbol: ADAMTS13
ADAMTS13
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 AlteredExpression BEFREE In summary, this is the first observational study reporting association between higher mortality or thrombotic complications and increased platelet count, increased VWF:Ag levels and decreased ADAMTS13 activity in colorectal cancer. 29304532

2018

Entrez Id: 177
Gene Symbol: AGER
AGER
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.020 Biomarker BEFREE Sugar makes neutrophils RAGE: linking diabetes-associated hyperglycemia to thrombocytosis and platelet reactivity. 28504654

2017

Entrez Id: 177
Gene Symbol: AGER
AGER
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.020 Biomarker BEFREE Lowering blood glucose using a sodium-glucose cotransporter 2 inhibitor (dapagliflozin), depleting neutrophils or Kupffer cells, or inhibiting S100A8/A9 binding to RAGE (using paquinimod), all reduced diabetes-induced thrombocytosis. 28504650

2017

Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 GeneticVariation BEFREE Inflammatory myofibroblastic tumor with thrombocytosis and a unique chromosomal translocation With ALK rearrangement. 16831032

2006

Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 AlteredExpression BEFREE Multivariate regression analysis showed increasing age and male gender negatively affected the number of platelets, whereas a higher serum apolipoprotein B level was associated with an elevated platelet count. 30071080

2018

Entrez Id: 358
Gene Symbol: AQP1
AQP1
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 AlteredExpression BEFREE Prognostic factors for MM include not only the histological subtypes, but other independent variables that include (among others), AQP1 expression by mesothelioma cells, the clinical status of the patient, the serum neutrophil:lymphocyte ratio and blood thrombocytosis. 23833051

2013

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.020 GeneticVariation BEFREE Short AR allelotype (< or = 20 CAG repeats) was associated with a higher incidence of thrombocytosis (P = 0.04). 16299230

2005

Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.020 GeneticVariation BEFREE The present study was conducted 1) to determine the heterozygosity rate for HUMARA locus in Taiwanese women, 2) to determine the frequency of excessive skewing in different cell types, and 3) to determine the utility of XCIPs in the differential diagnosis of thrombocytosis. 11166459

2001

Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 Biomarker BEFREE Disabling the platelet intrinsic apoptotic pathway in mice by deleting BAK and BAX results in a doubling of platelet life span and concomitant thrombocytosis. 29784641

2018

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.130 GeneticVariation BEFREE In agreement with published data, our results showed association of the BCR-ABL1 transcript e14a2 with thrombocytosis and the BCR-ABL1 transcript e13a2 with higher leukocytosis in patients with chronic myeloid leukemia. 28437552

2017

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.130 Biomarker BEFREE Translocation t(3;20) associated with thrombocythemia in Ph-positive CML. 3455853

1986

Entrez Id: 613
Gene Symbol: BCR
BCR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.130 Biomarker BEFREE This case highlights the need to include BCR/ABL1 fusion testing to accurately diagnose pediatric patients presenting with isolated thrombocytosis. 29187020

2019

Entrez Id: 645
Gene Symbol: BLVRB
BLVRB
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.010 GeneticVariation BEFREE In this study, platelet transcriptome sequencing and extended thrombocytosis cohort analyses identified a single loss-of-function mutation (BLVRB(S111L)) causally associated with clonal and nonclonal disorders of enhanced platelet production. 27207795

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Time free from cytoreduction was significantly shorter in CALR-mutated patients with essential thrombocythemia than in JAK2(V617F)-mutated ones (median time 5 years and 9.8 years, respectively; P=0.0002) and cytoreduction was usually necessary to control extreme thrombocytosis. 27175028

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE We investigated the JAK2 V617F, CALR and STAT5 activation status in patients with CML and thrombocytosis (CML-T) that mimicked ET, trying to identify a common mechanism for thrombocytosis in MPN. 26754830

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE Mice with Calr mutations homologous to human CALR mutations only exhibit mild thrombocytosis. 30926777

2019

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 AlteredExpression BEFREE The expression of CALR-del52 and CALR-ins5 mutants caused an increase in the hematopoietic stem/progenitor cells followed by thrombocytosis without affecting normal angiogenesis. 27716741

2016

Entrez Id: 811
Gene Symbol: CALR
CALR
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.200 GeneticVariation BEFREE In this brief review of ET, we introduce a rare CALR mutation through a case presentation of a 58-year-old man with diffuse pulmonary emboli in the setting of thrombocytosis. 29411299

2018