PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia. 26268049 2016