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: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.310 Biomarker disease CTD_human Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. 24705254 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.310 Biomarker disease CTD_human Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma. 24705252 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.310 GeneticVariation disease BEFREE We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs. 24705251 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.310 Biomarker disease CTD_human We identified recurrent somatic mutations in ACVR1 exclusively in DIPGs (32%), in addition to previously reported frequent somatic mutations in histone H3 genes, TP53 and ATRX, in both DIPGs and NBS-HGGs. 24705251 2014