DisGeNET - a database of gene-disease associations

PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47

Disease: Gerstmann-Straussler-Scheinker Disease ×

Variant: rs17852079 ×

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:

rs17852079

1.000

0.120

4699899

stop gained

C/A;T

snv

CUI:	C0017495
Disease:	Gerstmann-Straussler-Scheinker Disease

Gerstmann-Straussler-Scheinker Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases

0.710

1.000

2010