DisGeNET - a database of gene-disease associations

CYP27A1, cytochrome P450 family 27 subfamily A member 1, 1593

N. diseases: 167; N. variants: 78

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

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

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

26156051

2016

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.

26906304

2016

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.

25983621

2015

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].

24746394

2015

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

BEFREE

The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians.

25424010

2014

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.

21955034

2012

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

21645175

2011

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Four novel CYP27A1 mutations in seven Italian patients with CTX.

20402754

2010

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

18227423

2008

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.

17697869

2007

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

BEFREE

The prevalence of CTX due to CYP27 mutation R362C alone is approximately 1 per 50,000 among white individuals.

16157755

2005

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

UNIPROT

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

12000359

2002

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

10775536

2000

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

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:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.

9790667

1998

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

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:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.

8950197

1996

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

UNIPROT

Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

7915755

1994

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

UNIPROT

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

2019602

1991

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

CausalMutation

CLINVAR

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

2019602

1991

dbSNP:

rs121908096

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.830

GeneticVariation

CLINVAR

dbSNP:

rs72551322

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.810

GeneticVariation

CLINVAR

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

27225395

2016

dbSNP:

rs72551322

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.810

GeneticVariation

CLINVAR

Look carefully to the heels! A potentially treatable cause of spastic paraplegia.

25112387

2015

dbSNP:

rs72551322

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

0.810

GeneticVariation

CLINVAR

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

24584636

2014