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 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 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 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 GeneticVariation UNIPROT Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905

1999