Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.710 CausalMutation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.710 GeneticVariation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 GeneticVariation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation CLINVAR Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920

2008
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation CLINVAR Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 21735175

2012
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.710 CausalMutation CLINVAR Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 23165780

2012
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY 		0.400 CausalMutation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.150 GeneticVariation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.140 GeneticVariation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210

2014
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Phenotypic spectrum associated with CASK loss-of-function mutations. 21954287

2011
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR MAGUKs, synaptic development, and synaptic plasticity. 21498811

2011
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Phenotypic and molecular insights into CASK-related disorders in males. 25886057

2015
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0013421
Disease: Dystonia
Dystonia 		0.100 GeneticVariation CLINVAR

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