Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. 28098945 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype BEFREE Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. 25223753 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO