PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Amyloidosis, Cerebral, with Spongiform Encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931022
Disease: Amyloidosis, Cerebral, with Spongiform Encephalopathy
Amyloidosis, Cerebral, with Spongiform Encephalopathy 		0.030 GeneticVariation disease BEFREE We have generated lines of transgenic mice that express a mutant prion protein (PrP) containing 14 octapeptide repeats whose human homologue is associated with an inherited prion dementia. 10805813 2000
CUI: C2931022
Disease: Amyloidosis, Cerebral, with Spongiform Encephalopathy
Amyloidosis, Cerebral, with Spongiform Encephalopathy 		0.030 GeneticVariation disease BEFREE We have produced transgenic mice that express the mouse homolog of a mutant human PrP containing a nine octapeptide insertion associated with prion dementia. 9883727 1998
CUI: C2931022
Disease: Amyloidosis, Cerebral, with Spongiform Encephalopathy
Amyloidosis, Cerebral, with Spongiform Encephalopathy 		0.030 GeneticVariation disease BEFREE The term "prion dementia" has been proposed to replace "spongiform encephalopathy", to accommodate the existence of atypical forms of these "prion protein" (PrP) cerebral amyloidoses that may not show spongiform changes in the brain. 8093741 1993