KDM5C, lysine demethylase 5C, 8242

N. diseases: 18; N. variants: 29
Disease: Global developmental delay ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008