DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Rett Syndrome ×

Variant: rs28934904 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

27929079

2016

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Functional outcomes in Rett syndrome.

26175308

2016

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

21160487

2011

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

MeCP2 Rett mutations affect large scale chromatin organization.

21831886

2011

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

19722030

2009

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

15173251

2004

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

15526954

2004

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

12746406

2003

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

DHPLC analysis of the MECP2 gene in Italian Rett patients.

11462237

2001

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

11309679

2001

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Mutation screening in Rett syndrome patients.

10745042

2000

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

10814718

2000

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.

10991688

2000

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Functional consequences of Rett syndrome mutations on human MeCP2.

11058114

2000

dbSNP:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

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:

rs28934904

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.880

CausalMutation

CLINVAR

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

10577905

1999