Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776508
rs587776508
Entrez Id: 8099;91574
Gene Symbol: CDK2AP1;C12orf65
CDK2AP1;C12orf65
CUI: C3539506
Disease:
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010