DisGeNET - a database of gene-disease associations

Xanthomatosis, Cerebrotendinous, C0238052

Variant: rs397515354 ×

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:

rs397515354

CYP27A1

0.700

CausalMutation

CLINVAR

Tendon xanthomas: Not always familial hypercholesterolemia.

27678445

2017

dbSNP:

rs397515354

CYP27A1

0.700

CausalMutation

CLINVAR

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

25525159

2015

dbSNP:

rs397515354

CYP27A1

0.700

CausalMutation

CLINVAR

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

10430841

1999