ACTN3, actinin alpha 3 (gene/pseudogene), 89

N. diseases: 41; N. variants: 4
Disease: ovarian neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 GeneticVariation disease BEFREE Recently, genetic analysis of the ovarian cancer cell line SKOV3 revealed a rearrangement described as der(19)t(11;19)(q13.2;p13.2), which lead to a fusion protein containing parts of HOOK2 and frame shifted ACTN3 that had unknown functionality. 24615723 2014