Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0272278
Disease:
Congenital thrombocytopenia
0.010 GeneticVariation BEFREE A number of engineered or disease-associated TpoRs such as TpoR/MPL R102P, which causes congenital thrombocytopenia, are rescued for traffic and function by mutant CALRs, which can also overcome endoplasmic reticulum retention signals on TpoR. 30902807 2019
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis. 30183354 2018
dbSNP: rs17292650
rs17292650
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.010 GeneticVariation BEFREE Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation. 29296828 2017
dbSNP: rs770166362
rs770166362
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0040028
Disease:
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE Here, we report the derivation of induced pluripotent stem cells (iPSCs) from an ET patient with a heterozygous MPL V501L mutation. 28395806 2017
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease:
Thrombocytosis
0.010 GeneticVariation BEFREE The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required. 26919114 2016
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE These studies identify several pathways which offer potential targets for therapeutic intervention in the treatment of MPL W515L-driven malignancy. 26919114 2016
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE These studies identify several pathways which offer potential targets for therapeutic intervention in the treatment of MPL W515L-driven malignancy. 26919114 2016
dbSNP: rs1476891431
rs1476891431
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0027022
Disease:
Myeloproliferative disease
0.010 GeneticVariation BEFREE To analyze the relationship between six polymorphisms in genes related to oxidative stress, namely CAT-262 C>T, MnSOD Ala16Val, GPX1 Pro198Leu, GSTM1 and GSTT1 null genotypes, and GSTP1 Ile105Val, and the occurrence of BCR-ABL negative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, and primary myelofibrosis). 27077777 2016
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Retrospective molecular studies detected a MPL W515S homozygous mutation in both the initial and remission marrows for B-ALL, at 30-40% and 80% dosage effect, respectively. 25453399 2015
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation BEFREE Retrospective molecular studies detected a MPL W515S homozygous mutation in both the initial and remission marrows for B-ALL, at 30-40% and 80% dosage effect, respectively. 25453399 2015
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0023448
Disease:
Lymphoid leukemia
0.010 GeneticVariation BEFREE Retrospective molecular studies detected a MPL W515S homozygous mutation in both the initial and remission marrows for B-ALL, at 30-40% and 80% dosage effect, respectively. 25453399 2015
dbSNP: rs141311765
rs141311765
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0040028
Disease:
Thrombocythemia, Essential
0.010 GeneticVariation BEFREE More importantly, we demonstrated that this MPL Y252H mutant confers increased TPO/MPL-mediated cell growth and increased cell survival upon cytokine withdrawal in BaF3 cells, indicating it is a disease-driving mutation and may contribute to the development of ET in vivo. 22389068 2012
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.010 GeneticVariation BEFREE Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. 19713221 2010
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C4303761
Disease:
Familial thrombocytosis
0.010 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. 19194467 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0013080
Disease:
Down Syndrome
0.010 GeneticVariation BEFREE In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. 19194467 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In contrast to cells expressing the parental MPL(W515L), MPL(W515L)-KDEL-expressing FDC-P1 cells were unable to grow autonomously and to produce tumors in nude mice. 19261614 2009
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C4303761
Disease:
Familial thrombocytosis
0.010 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380 2009
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0032463
Disease:
Polycythemia Vera
0.010 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380 2009
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0280449
Disease:
secondary acute myeloid leukemia
0.010 GeneticVariation BEFREE None of the secondary AML cases evolving from pre-existing PMF showed MPL(W515K/L) (n=4). 19194467 2009
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C4303761
Disease:
Familial thrombocytosis
0.010 GeneticVariation BEFREE Strong support for association of the novel MPL mutation p.Pro106Leu with development of familial thrombocytosis has been obtained. 19036112 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. 18479730 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C2347761
Disease:
Childhood Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. 18479730 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3900098
Disease:
Adult Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. 18479730 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114 2008