MED16, mediator complex subunit 16, 10025

N. diseases: 4; N. variants: 1
Disease: Schwannomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.010 Biomarker disease BEFREE Although the exact oncogenetic mechanisms in this schwannomatosis family remain to be elucidated, our data strongly indicate a probable role of COQ6 mutation and CoQ10 deficiency in the development of familial schwannomatosis.Genet Med 16 10, 787-792. 24763291 2014