rs1554389088, CAMK2B

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR The molecular basis of CaMKII function in synaptic and behavioural memory. 11994750 2002
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
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
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017