RCOR1, REST corepressor 1, 23186

N. diseases: 36; N. variants: 6
Disease: Lujan Fryns syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.010 Biomarker disease BEFREE Notably, missense mutations in MED12 causing the X-linked mental retardation (XLMR) disorders FG syndrome and Lujan syndrome disrupt its REST corepressor function. 18691967 2008