Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Deletion of CASK in mice is lethal and impairs synaptic function. 17287346 2007
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice. 28234597 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN 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
0.300 Biomarker disease CLINGEN 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
0.300 Biomarker disease CLINGEN Phenotypic spectrum associated with CASK loss-of-function mutations. 21954287 2011
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Phenotypic and molecular insights into CASK-related disorders in males. 25886057 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. 27036546 2016
Entrez Id: 8573
Gene Symbol: CASK
CASK
0.300 Biomarker disease CLINGEN Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. 29067402 2017