rs1554386687, CAMK2B

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
0.800 GeneticVariation UNIPROT De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: 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
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
0.800 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Congenital digestive system anomalies
CUI: C0266015
Disease: Congenital digestive system anomalies
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017