DisGeNET - a database of gene-disease associations

Xanthomatosis, Cerebrotendinous, C0238052

Variant: rs397515355 ×

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:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

27878435

2017

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.

26937392

2015

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid.

22878431

2013

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

10775536

2000

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

9392430

1997

dbSNP:

rs397515355

CYP27A1

0.700

CausalMutation

CLINVAR

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

8827518

1996