DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS ×

Variant: rs1557135004 ×

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:

rs1557135004

MECP2

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

23696494

2013

dbSNP:

rs1557135004

MECP2

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

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

19914908

2010

dbSNP:

rs1557135004

MECP2

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

16473305

2006

dbSNP:

rs1557135004

MECP2

CUI:	C1968556
Disease:	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

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

10814718

2000