DisGeNET - a database of gene-disease associations

CYP27A1, cytochrome P450 family 27 subfamily A member 1, 1593

N. diseases: 167; N. variants: 78

Disease: Xanthomatosis, Cerebrotendinous ×

Variant: rs200883871 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200883871

rs200883871

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

CUI:	C0238052
Disease:

Xanthomatosis, Cerebrotendinous

C

0.700

CausalMutation

CLINVAR