DisGeNET - a database of gene-disease associations

Xanthomatosis, Cerebrotendinous, C0238052

Variant: rs397515356 ×

Source: ALL

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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:

rs397515356

rs397515356

CYP27A1

A

0.700

GeneticVariation

CLINVAR

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

2002

dbSNP:

rs397515356

rs397515356

CYP27A1

A

0.700

CausalMutation

CLINVAR