Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 Biomarker disease CTD_human
Entrez Id: 7066
Gene Symbol: THPO
THPO 		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
Entrez Id: 7066
Gene Symbol: THPO
THPO 		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
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. 26854587 2016
Entrez Id: 7066
Gene Symbol: THPO
THPO 		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
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 20188141 2010
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE As previously suggested, c-MPL mutation analysis in CAMT patients helps to predict the clinical course and to provide optimal therapy. 18090929 2007
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with CAMT. 10077649 1999
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041 2018
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GermlineCausalMutation disease ORPHANET Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease CLINVAR Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 23625800 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171 2008
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 Biomarker disease GENOMICS_ENGLAND Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 18024606 2007
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. 22180433 2012
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 19036112 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease BEFREE Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008