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: 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: 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: 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: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker HPO

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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.150 Biomarker HPO

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 Biomarker HPO

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

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.130 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.120 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker HPO

Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.110 Biomarker HPO

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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker HPO

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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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 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 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 24768552

2014