KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 GeneticVariation disease CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 GeneticVariation disease CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837 2012
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 CausalMutation disease CLINVAR