DisGeNET - a database of gene-disease associations

Intellectual Disability, C3714756

Variant: rs267608402 ×

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:

rs267608402

rs267608402

MECP2

0.010

GeneticVariation

BEFREE

Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation.

2009