Congenital amegakaryocytic thrombocytopenia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. (Orphanet Rare Disease Ontology, Orphanet_3319)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535982
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Genes

1 genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
MPL MPL proto-oncogene, thrombopoietin receptor 2.88009