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: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		disease 0.600 strong 1.000 1 6 2017 2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 3 4 2002 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 1.000 1 3 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 5 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		phenotype 0.100 None 1.000 1 3 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 1.000 1 5 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		group 0.100 None 1.000 1 4 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 1 2 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0085631
Disease: Agitation
Agitation 		phenotype 0.100 None 0 1