Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 GeneticVariation group BEFREE Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. 29100089 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group HPO