ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Atypical Lipoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		0.010 GeneticVariation disease BEFREE K27M-H3.1 and ACVR1 mutations as well as ALT phenotype were only found in WHO grade III-IV astrocytomas, while PIK3CA mutations and PDGFRA gains/amplifications were found in WHO grade II-IV astrocytomas. 25047029 2014