KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Spastic Paraplegia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569285562
rs1569285562 		1.000 0.080 X 53224889 start lost T/C snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2012 2015
dbSNP: rs1057518697
rs1057518697 		0.925 0.120 X 53210820 missense variant G/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0