DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Variant: rs1555977248 ×

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:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Phenotypic and molecular insights into CASK-related disorders in males.

25886057

2015

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

The genetic landscape of infantile spasms.

24781210

2014

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

24768552

2014

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

23623288

2014

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

23662938

2013

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

22452838

2012

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

22709267

2012

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

22495306

2012

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

MAGUKs, synaptic development, and synaptic plasticity.

21498811

2011

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Phenotypic spectrum associated with CASK loss-of-function mutations.

21954287

2011

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

20029458

2010

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

19377476

2009

dbSNP:

rs1555977248

CASK

0.700

CausalMutation

CLINVAR

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

19165920

2008