rs72551318, CYP27A1

N. diseases: 1
Disease: Xanthomatosis, Cerebrotendinous ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xanthomatosis, Cerebrotendinous
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
0.700 CausalMutation CLINVAR Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. 27084087 2016
Xanthomatosis, Cerebrotendinous
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
0.700 CausalMutation CLINVAR Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 22878431 2013