DisGeNET - a database of gene-disease associations

Severe receptive language delay, C3532947

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:

rs587777893

rs587777893

MTOR

A

0.700

CausalMutation

CLINVAR

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

2016

dbSNP:

rs1568019012

rs1568019012

LAMA1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569355102

rs1569355102

DYRK1A

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs368869806

rs368869806

PTCH1

T

0.700

CausalMutation

CLINVAR