DisGeNET - a database of gene-disease associations

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS, C1968556

Variant: rs61752992 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs61752992

MECP2

0.700

CausalMutation

CLINVAR

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

21982064

2012

dbSNP:

rs61752992

MECP2

0.700

CausalMutation

CLINVAR

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

19914908

2010

dbSNP:

rs61752992

MECP2

0.700

CausalMutation

CLINVAR

Variable phenotypic expression of a MECP2 mutation in a family.

20151026

2009

dbSNP:

rs61752992

MECP2

0.700

CausalMutation

CLINVAR

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

17089071

2007

dbSNP:

rs61752992

MECP2

0.700

CausalMutation

CLINVAR

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

17387578

2007