DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Creutzfeldt-Jakob disease ×

Variant: rs769346296 ×

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:

rs769346296

PRNP

CUI:	C0022336
Disease:	Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease

0.030

GeneticVariation

BEFREE

Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.

31238786

2019

dbSNP:

rs769346296

PRNP

CUI:	C0022336
Disease:	Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease

0.030

GeneticVariation

BEFREE

Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.

27310471

2016

dbSNP:

rs769346296

PRNP

CUI:	C0022336
Disease:	Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease

0.030

GeneticVariation

BEFREE

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease.

23787189

2014