Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Phenotypic and molecular insights into CASK-related disorders in males. 25886057 2015
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 24768552 2014
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. 23623288 2014
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 22709267 2012
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 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
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306 2012
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR MAGUKs, synaptic development, and synaptic plasticity. 21498811 2011
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with CASK loss-of-function mutations. 21954287 2011
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 20029458 2010
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
dbSNP: rs1555977248
rs1555977248
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 19165920 2008