DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

Variant: rs61751362 ×

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:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

26604147

2016

dbSNP:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.

27442528

2016

dbSNP:

rs61751362

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:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

19722030

2009

dbSNP:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

18332345

2008

dbSNP:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Male Rett phenotypes in T158M and R294X MeCP2-mutations.

17236109

2006

dbSNP:

rs61751362

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:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

15737703

2005

dbSNP:

rs61751362

MECP2

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

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

0.700

CausalMutation

CLINVAR

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

11241840

2001

dbSNP:

rs61751362

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