ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Childhood Brain Stem Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332951
Disease: Childhood Brain Stem Neoplasm
Childhood Brain Stem Neoplasm 		0.010 GeneticVariation disease BEFREE Whole-genome sequencing studies have recently identified a quarter of cases of the rare childhood brainstem tumor diffuse intrinsic pontine glioma to harbor somatic mutations in ACVR1. 25136070 2014