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 CausalMutation disease CLINVAR [Limulus test (factor G) and polysaccharides from fungus]. 1402105 1992
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 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 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 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 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 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 BEFREE Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene. 10602120 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. 10737989 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation disease CLINVAR A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. 10745042 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE In this study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. 10745042 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. 10745042 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 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 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 GeneticVariation disease UNIPROT 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 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 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 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE We analysed the MECP2 gene in 31 patients diagnosed with RTT. 10814718 2000