Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72551322
rs72551322
CYP27A1
G 0.810 GeneticVariation CLINVAR Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. 27225395

2016
dbSNP: rs72551322
rs72551322
CYP27A1
G 0.810 GeneticVariation CLINVAR Look carefully to the heels! A potentially treatable cause of spastic paraplegia. 25112387

2015
dbSNP: rs72551322
rs72551322
CYP27A1
T 0.810 GeneticVariation CLINVAR Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 24584636

2014
dbSNP: rs72551322
rs72551322
CYP27A1
G 0.810 GeneticVariation CLINVAR Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. 21764626

2012
dbSNP: rs72551322
rs72551322
CYP27A1
T 0.810 GeneticVariation CLINVAR The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other. 21073839

2011
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation BEFREE The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other. 21073839

2011
dbSNP: rs72551322
rs72551322
CYP27A1
G 0.810 GeneticVariation CLINVAR Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. 16278884

2005
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. 12000359

2002
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. 9790667

1998
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 9186905

1997
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). 7915755

1994
dbSNP: rs72551322
rs72551322
CYP27A1
T 0.810 GeneticVariation CLINVAR Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs72551322
rs72551322
CYP27A1
0.810 GeneticVariation UNIPROT Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602

1991
dbSNP: rs72551322
rs72551322
CYP27A1
T 0.810 CausalMutation CLINVAR

dbSNP: rs72551322
rs72551322
CYP27A1
G 0.810 CausalMutation CLINVAR