Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		disease 0.710 None 1.000 3 41 2008 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		disease 0.710 None 1.000 0 8 2008 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C2720289
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY 		disease 0.400 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.150 None 1.000 0 1 2010 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.140 None 1.000 0 2 2010 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2008 2008
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 13 1 2008 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 13 1 2008 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 1 2008 2015
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 1