rs1554389088, CAMK2B

N. diseases: 27
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
7 0.807 0.160 7 44243526 missense variant G/A snv 0.800 1.000 2 2017 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 3 2002 2017
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Congenital digestive system anomalies
CUI: C0266015
Disease: Congenital digestive system anomalies
5 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Constipation
CUI: C0009806
Disease: Constipation
57 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
5 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
6 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
Agitation
CUI: C0085631
Disease: Agitation
4 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0
Apnea
CUI: C0003578
Disease: Apnea
11 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0