MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR [Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials]. 1105898 1975
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease CLINVAR Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate. 2460487 1988
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR [Limulus test (factor G) and polysaccharides from fungus]. 1402105 1992
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. 9674909 1998
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome. 10944854 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT. 10767337 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease CLINVAR Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. 10852707 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing. 10814719 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE The association of early truncating mutations with nonrandom XCI, along with the fact that chimeric mice lacking methyl-CpG-binding protein 2 (MeCP2) function die during embryogenesis, supports the notion that RTT is caused by partial loss of MeCP2 function. 10805343 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease CLINVAR Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 10805343 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE Although much is known about the biochemical function of MeCP2, the phenotype of Rett syndrome suggests that it plays an unexplored but critical role in development and maintenance of the nervous system. 11005791 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively. 11055898 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT. 10767337 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome. 10944854 2000