KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. 23354975 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO