Source: INFERRED

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: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.500 None 1.000 0 0 2008 2019
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: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 None 1.000 0 0 1998 1998
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.190 None 1.000 0 0 2008 2018
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: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease 0.130 None 1.000 0 0 2017 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.120 None 1.000 0 0 2010 2019
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: C0037769
Disease: West Syndrome
West Syndrome 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2017 2017
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: 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: 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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1849025
Disease: Oval face
Oval face 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0