Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR [Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials]. 1105898

1975
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR [Limulus test (factor G) and polysaccharides from fungus]. 1402105

1992
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate. 2460487

1988
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation BEFREE Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. 9674909

1998
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker CLINGEN Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation BEFREE Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation UNIPROT Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation BEFREE Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome. 10737989

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 10805343

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation BEFREE We analysed the MECP2 gene in 31 patients diagnosed with RTT. 10814718

2000