DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Rett Syndrome ×

Variant: rs61749751 ×

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:

rs61749751

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

CausalMutation

CLINVAR

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

17387578

2007

dbSNP:

rs61749751

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

CausalMutation

CLINVAR

Rett syndrome: clinical manifestations in males with MECP2 mutations.

11913564

2002

dbSNP:

rs61749751

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs61749751

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

CGG

0.700

CausalMutation

CLINVAR