| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) of the <i>THPO</i> gene. | 29191945 | 2018 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The <i>MPL</i> R102P mutation was first described in congenital amegakaryocytic thrombocytopenia in a homozygous state with a loss-of-function activity. | 28979237 | 2017 | ||||
|
0.090 | AlteredExpression | disease | BEFREE | The marrow findings and a significantly elevated plasma thrombopoietin (Tpo) level were consistent with congenital amegakaryocytic thrombocytopenia; we sought a genetic mutation that could explain this phenotype. | 23446178 | 2013 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL). | 17666371 | 2007 | ||||
|
0.090 | Biomarker | disease | BEFREE | Congenital amegakaryocytic thrombocytopenia (CAMT) and thrombocytopenia with absent radii (TAR) share features of isolated thrombocytopenia, reduced or absent marrow megakaryocytes, impaired responsiveness to thrombopoietin (TPO), and high plasma TPO levels. | 16822462 | 2006 | ||||
|
0.090 | Biomarker | disease | BEFREE | Thrombopoietin is essential for the maintenance of normal hematopoiesis in humans: development of aplastic anemia in patients with congenital amegakaryocytic thrombocytopenia. | 12799278 | 2003 | ||||
|
0.090 | Biomarker | disease | BEFREE | We analyzed 9 patients with CAMT for defects in TPO production and reactivity. | 11133753 | 2001 | ||||
|
0.090 | Biomarker | disease | BEFREE | Functional studies demonstrated defective thrombopoietin (TPO) reactivity in hematopoietic progenitor cells and platelets in CAMT patients. | 11458519 | 2001 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Recently, two heterozygous truncating mutations of the thrombopoietin (TPO) receptor MPL, coded by the c-mpl gene, were identified in a 10-year-old Japanese patient with CAMT transmitted in an autosomal recessive manner. | 11071383 | 2000 |