KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Cerebral Palsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 Biomarker disease BEFREE Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were predicted to be potentially pathogenic for CP. 25666757 2015