Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 GeneticVariation group BEFREE We identified a de novo variant, c.2304G>A (p.(Trp768*)), in the C-terminal protein coding part of the X-chromosomal gene CNKSR2 in a female patient with seizures and mild ID. 31414730 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO