DisGeNET - a database of gene-disease associations

Severe intellectual disability, C0036857

Variant: rs112795301 ×

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:

rs112795301

rs112795301

FOXP1

0.710

GeneticVariation

BEFREE

FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation.

2019

dbSNP:

rs112795301

rs112795301

FOXP1

A

0.710

CausalMutation

CLINVAR