DisGeNET - a database of gene-disease associations

Source: CTD_human

Disease: Atypical Inclusion-Body Disease ×

Gene: PRNP ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5621
Gene Symbol:	PRNP

PRNP

CUI:	C0751776
Disease:	Atypical Inclusion-Body Disease

Atypical Inclusion-Body Disease

0.300

Biomarker

CTD_human

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

2015