ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.040 GeneticVariation group BEFREE Localization of the FOP-FGFR1 fusion kinase to centriolar satellites may be relevant to myeloproliferative neoplasm disease progression. 23554904 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.040 GeneticVariation group BEFREE The t(6;8) translocation found in rare and agressive myeloproliferative disorders results in a chimeric gene encoding the FOP-FGFR1 fusion protein. 18412956 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.040 GeneticVariation group BEFREE FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. 12969958 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.040 Biomarker group BEFREE 8p12 stem cell myeloproliferative disorder: the FOP-fibroblast growth factor receptor 1 fusion protein of the t(6;8) translocation induces cell survival mediated by mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt/mTOR pathways. 11689702 2001