MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312 2008
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946 2003
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834 2000