DisGeNET - a database of gene-disease associations

Prion Diseases, C0162534

Variant: rs11538758 ×

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:

rs11538758

PRNP

0.720

GeneticVariation

BEFREE

An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.

10408557

1999

dbSNP:

rs11538758

PRNP

0.720

GeneticVariation

BEFREE

A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis.

8250529

1993

dbSNP:

rs11538758

PRNP

0.720

CausalMutation

CLINVAR