Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
0.800 | GeneticVariation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
0.800 | GeneticVariation | UNIPROT | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
0.800 | GeneticVariation | UNIPROT | De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. | 29560374 | 2018 | |||||
Hyperventilation
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Global developmental delay
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Agitation
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. | 29100083 | 2017 | |||||
Dystonia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Apnea
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Microcephaly (physical finding)
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | The molecular basis of CaMKII function in synaptic and behavioural memory. | 11994750 | 2002 | |||||
Muscle hypotonia
|
0.700 | GeneticVariation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
0.800 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Delayed speech and language development
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Sleep disturbances
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Microcephaly (physical finding)
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Constipation
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Poor school performance
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Pediatric failure to thrive
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Growth abnormality
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Gross motor development delay
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Abnormal emotion/affect behavior
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Profound global developmental delay
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Neonatal respiratory distress
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 | |||||
Abnormality of the eye
|
0.700 | CausalMutation | CLINVAR | De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. | 29100089 | 2017 |