DisGeNET - a database of gene-disease associations

Xanthomatosis, Cerebrotendinous, C0238052

Variant: rs121908097 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908097

CYP27A1

0.810

GeneticVariation

UNIPROT

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

12000359

2002

dbSNP:

rs121908097

CYP27A1

0.810

GeneticVariation

BEFREE

We report the identification of three types of mutations (Arg441Trp, Arg372Gln, and Arg441Gln) in the CYP27 gene in five patients with suspected CTX from four unrelated families by restriction endonuclease analysis.

9748042

1998

dbSNP:

rs121908097

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:

rs121908097

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:

rs121908097

CYP27A1

0.810

GeneticVariation

UNIPROT

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

7915755

1994

dbSNP:

rs121908097

CYP27A1

0.810

GeneticVariation

UNIPROT

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

2019602

1991

dbSNP:

rs121908097

CYP27A1

0.810

CausalMutation

CLINVAR