Annotation Detail
Information
- Associated Genes
- GH1
- Associated Variants
-
GH1 p.Glu200Lys (p.E200K)
(
ENST00000323322.10,
ENST00000342364.8,
ENST00000617086.1,
ENST00000351388.8,
ENST00000458650.6 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000457586.2, ENST00000430350.2, ENST00000379440.9, ENST00000424424.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
GH1 p.Glu200Lys (p.E200K) ( ENST00000323322.10, ENST00000342364.8, ENST00000351388.8, ENST00000458650.6, ENST00000617086.1 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob Disease, Sporadic
- Source Database
- DisGeNET
- Description
- The relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation and astrocytosis were studied in the frontal cortex of 27 cases of human spongiform encephalopathy, encompassing 13 cases of sporadic Creutzfeldt-Jakob disease (sCJD), four cases of familial CJD (fCJD) (one owing to E200K mutation, one owing to 144 bp insertion, one owing to P102L mutation and one owing to A117V mutation), five cases of iatrogenic CJD (iCJD) owing to growth hormone therapy and five cases of variant CJD (vCJD).
- Pubmed
- 14507340
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2003
Drugs