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: C0259783
Disease: mixed gliomas
mixed gliomas
0.300 Biomarker disease CTD_human Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. 24705252 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
0.300 Biomarker disease CTD_human The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. 24705251 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
0.300 Biomarker disease CTD_human Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. 24705254 2014