KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281860639
rs281860639
Entrez Id: 8242;102466759
Gene Symbol: KDM5C;MIR6894
KDM5C;MIR6894
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype. 21575681 2011