rs1448812001
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
|
0.700 |
GeneticVariation |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Thrombocytopenia in c-mpl-deficient mice.
|
8073287 |
1994 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
rs146249964
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
CausalMutation |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
rs148434485
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
T |
0.700 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs1553128241
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs587778514
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
rs587778514
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
rs587778514
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs587778514
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
rs587778515
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs587778515
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
CausalMutation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
rs750046020
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
|
19036112 |
2009 |
rs750046020
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
T |
0.700 |
CausalMutation |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs755257605
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
rs755257605
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
|
23625800 |
2013 |
rs758428763
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs763568293
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
|
0.700 |
GeneticVariation |
UNIPROT |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs763568293
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
|
0.700 |
GeneticVariation |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs764904424
|
Entrez Id: |
4352 |
Gene Symbol: |
MPL |
MPL
|
Congenital amegakaryocytic thrombocytopenia
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|