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MPL - MPL proto-oncogene, thrombopoietin receptor

Synonym(s) : CD110, THPOR, TPOR
Previous symbols and names : myeloproliferative leukemia virus oncogene
Type : gene with protein product
Chromosomal location : 1p34.2
OMIM: 159530
HGNC: 7217
UniProtKB: P40238
Genatlas: MPL
Ensembl: ENSG00000117400
IUPHAR-DB: 1722
Reactome: P40238
LOVD: MPL

Diseases list

Disease-causing germline mutation(s) in Familial thrombocytosis ORPHA:71493
Disease-causing germline mutation(s) (loss of function) in Congenital amegakaryocytic thrombocytopenia ORPHA:3319
Disease-causing germline mutation(s) (loss of function) in Hereditary isolated aplastic anemia ORPHA:397692
Disease-causing somatic mutation(s) in Essential thrombocythemia ORPHA:3318
Disease-causing somatic mutation(s) in Polycythemia vera ORPHA:729
Disease-causing somatic mutation(s) in Primary myelofibrosis ORPHA:824

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Patient-centred resources for this gene

Diagnostic tests (117)

Research activities on this gene

Specialised Social Services

Eurordis directory

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