DisGeNET - a database of gene-disease associations

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT, C3280282

Variant: rs1554770624 ×

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:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

28095420

2017

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

28228639

2017

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

28389307

2017

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

27164704

2016

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

25864721

2015

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

25167861

2014

dbSNP:

rs1554770624

GRIN1

0.800

GeneticVariation

UNIPROT

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

21376300

2011

dbSNP:

rs1554770624

GRIN1

0.800

CausalMutation

CLINVAR