Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Phenotypic and molecular insights into CASK-related disorders in males. 25886057

2015
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 24768552

2014
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. 23623288

2014
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210

2014
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 22709267

2012
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 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
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR MAGUKs, synaptic development, and synaptic plasticity. 21498811

2011
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Phenotypic spectrum associated with CASK loss-of-function mutations. 21954287

2011
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 20029458

2010
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920

2008