Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514

1999
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.900 CausalMutation CLINVAR The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105

2001
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202

2001