DisGeNET - a database of gene-disease associations

Xanthomatosis, Cerebrotendinous, C0238052

Variant: rs765512351 ×

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:

rs765512351

CYP27A1

0.700

GeneticVariation

CLINVAR

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.

23287330

2015

dbSNP:

rs765512351

CYP27A1

0.700

GeneticVariation

CLINVAR

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

26937392

2015

dbSNP:

rs765512351

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:

rs765512351

CYP27A1

0.700

CausalMutation

CLINVAR

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.

23287330

2015

dbSNP:

rs765512351

CYP27A1

0.700

GeneticVariation

CLINVAR

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

12555943

2002

dbSNP:

rs765512351

CYP27A1

0.700

GeneticVariation

CLINVAR

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

8931710

1996

dbSNP:

rs765512351

CYP27A1

0.700

CausalMutation

CLINVAR

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

8931710

1996