CUX2, cut like homeobox 2, 23316

N. diseases: 87; N. variants: 21
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 GeneticVariation group BEFREE Patients with CUX2 p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile-onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum.Ann Neurol 2018;83:926-934. 29630738 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO