KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Spastic Paraplegia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569285562
rs1569285562
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. 25666439 2015
dbSNP: rs1569285562
rs1569285562
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. 22326837 2012