DisGeNET - a database of gene-disease associations

Severe intellectual disability, C0036857

Variant: rs28934908 ×

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:

rs28934908

rs28934908

MECP2

0.010

GeneticVariation

BEFREE

In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation.

2000