Disease: Xanthomatosis, Cerebrotendinous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup. 22197981 2012
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. 21955034 2012
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Neurophysiological study in cerebrotendinous xanthomatosis. 21404287 2011
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. 21645175 2011
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis. 14999499 2004
dbSNP: rs573951598
rs573951598
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
CUI: C0238052
Disease:
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. 10775536 2000