DisGeNET - a database of gene-disease associations

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS, C1968556

Variant: rs61750241 ×

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:

rs61750241

MECP2

0.700

CausalMutation

CLINVAR

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

22497713

2012

dbSNP:

rs61750241

MECP2

0.700

CausalMutation

CLINVAR

Functional consequences of Rett syndrome mutations on human MeCP2.

11058114

2000

dbSNP:

rs61750241

MECP2

0.700

CausalMutation

CLINVAR

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

10577905

1999