MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Miller Dieker syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.040 Biomarker disease BEFREE Research aimed at the underlying pathophysiological mechanisms of RTT and MDS has significantly advanced our understanding of MeCP2 functions in the nervous system. 31527487 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.040 Biomarker disease BEFREE Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. 30788845 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.040 GeneticVariation disease BEFREE Duplication of MECP2 (Methyl-CpG-binding protein 2) causes severe mental illness called MECP2 duplication syndrome (MDS), yet the underlying mechanism remains elusive. 30560934 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.040 GeneticVariation disease BEFREE To date, no data on oxidative stress have been reported for the MECP2 gain-of-function mutations in patients with MDS. 26930212 2016