×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Tendon xanthomas: Not always familial hypercholesterolemia.
27678445
2017
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.
25941960
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.
27084087
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
Late-onset spinal form xanthomatosis without brain lesion: a case report.
26861945
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
26906304
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
Cerebrotendinous xanthomatosis (CTX ) is an autosomal recessive inborn error of bile acids synthesis and lipid accumulation caused by a deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 .
27225395
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
The generated line iPS-CTX -R395S has no sign of plasmid integration or chromosomal aberration and retained the mutation site in CYP27A1 .
27879219
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive disorder of lipid storage caused by mutations in the CYP27A1 gene, coding for a sterol 27-hydroxylase , leading to increased deposition of cholesterol in multiple tissues.
26874936
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
27455001
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
27455001
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited lipid storage disease caused by mutation in the CYP27A1 gene.
25941960
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Late-onset spinal form xanthomatosis without brain lesion: a case report.
26861945
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
Cerebrotendinous xanthomatosis (CTX ) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1 ) gene.
26861945
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
27225395
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
26156051
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.
25941960
2016
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
GESPA: classifying nsSNPs to predict disease association.
26206375
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
Biomarker
disease
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
23287330
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.
26937392
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
CLINVAR
Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
25112387
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
24746394
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
CausalMutation
disease
CLINVAR
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.
25983621
2015
×
Entrez Id:
1593
Gene Symbol:
CYP27A1
CYP27A1
0.800
GeneticVariation
disease
BEFREE
In order to provide an accurate incidence estimate of CTX , we studied the ExAC cohort of ~60,000 unrelated adults from global populations to determine the allele frequency of the 57 variants in CYP27A1 reported pathogenic for CTX .
26643207
2015