Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. | 28859041 | 2018 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. | 21659346 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. | 19302922 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. | 18422784 | 2008 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. | 18240171 | 2008 |
|||
|
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 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. | 11972523 | 2002 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. | 10971406 | 2000 |