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: rs1160640803 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1160640803

1.000

0.080

218809720

stop gained

G/A;C

snv

4.0E-06

7.0E-06

CUI:	C0238052
Disease:	Xanthomatosis, Cerebrotendinous

Xanthomatosis, Cerebrotendinous

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

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