MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
Disease: Paraganglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 GeneticVariation disease BEFREE In conclusion, we have identified recurrent mutations in genes related to intracellular transport and cell adhesion, and we have confirmed MYO5B to be recurrently mutated in PCC/PGL cases with malignant potential. 26650627 2016