MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Lubs X-linked mental retardation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 Biomarker disease BEFREE Our cases indicate that MECP2 triplication is similar to or more severe than that of MECP2 duplication syndrome. 21821449 2012
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 GeneticVariation disease BEFREE The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. 20082459 2010
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 GeneticVariation disease BEFREE Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome? 19592282 2010
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 AlteredExpression disease BEFREE To determine if this dual role of MeCP2 extends beyond the hypothalamus, we studied gene expression patterns in the cerebellum of Mecp2-null and MECP2-Tg mice, modeling RTT and MECP2 duplication syndrome, respectively. 19369296 2009
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 CausalMutation disease CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 CausalMutation disease CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905 1999
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 Biomarker disease CTD_human
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.800 ChromosomalRearrangement disease ORPHANET