COPS3, COP9 signalosome subunit 3, 8533

N. diseases: 24; N. variants: 0
Disease: Smith-Magenis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		0.010 Biomarker disease BEFREE We assessed the potential effect of haploinsufficiency of SGN3 in SMS patient lymphoblastoid cell lines through transfection studies and western analysis. 10588842 1999