×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
FG SYNDROME 4 (disorder)
0.710
CausalMutation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
FG SYNDROME 4 (disorder)
0.710
GeneticVariation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
0.710
GeneticVariation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
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
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
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
Microcephaly
0.500
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Cleft Palate
0.400
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
0.400
CausalMutation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Intellectual Disability
0.190
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Cerebellar Hypoplasia
0.150
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Cerebellar Hypoplasia
0.150
GeneticVariation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Nystagmus
0.140
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Nystagmus
0.140
GeneticVariation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Hypoplasia of the optic nerve
0.130
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Optic Atrophy
0.120
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Seizures
0.110
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
West Syndrome
0.110
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Global developmental delay
0.110
GeneticVariation
CLINVAR
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Global developmental delay
0.110
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Abdominal Pain
0.100
Biomarker
HPO
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
The genetic landscape of infantile spasms.
24781210
2014
×
Entrez Id:
8573
Gene Symbol:
CASK
CASK
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
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Phenotypic spectrum associated with CASK loss-of-function mutations.
21954287
2011