DisGeNET - a database of gene-disease associations

Source: CURATED

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

Variant: rs61749721 ×

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:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

25634563

2015

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Pubertal trajectory in females with Rett syndrome: a population-based study.

23270700

2013

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

MeCP2 deficiency is associated with impaired microtubule stability.

23238081

2013

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

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

17089071

2007

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Functional consequences of Rett syndrome mutations on human MeCP2.

11058114

2000

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

10508514

1999

dbSNP:

rs61749721

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

[Technic of the entire cochleogram for the study of the cochlea in guinea pigs].

1241840

1975