DisGeNET - a database of gene-disease associations

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder, C4014538

Variant: rs587777523 ×

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:

rs587777523

rs587777523

ADNP

C

0.700

CausalMutation

CLINVAR

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

2014