Congenital Amegakaryocytic Thrombocytopenia Gene Set

Dataset DisGeNET 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 https://www.disgenet.org/browser/0/1/0/C1327915
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Genes

7 genes associated with the disease Congenital Amegakaryocytic Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CD34 CD34 molecule
HOXA11 homeobox A11
IL3 interleukin 3
MECOM MDS1 and EVI1 complex locus
MPL MPL proto-oncogene, thrombopoietin receptor
RUNX1 runt-related transcription factor 1
THPO thrombopoietin