Disorder "Inherited prion disease"
Found 7 records
Disorder information
Disorder name:
Inherited prion disease
Disoder ID:
Synonyms:
Familial prion disease
Definition:
An instance of prion disease that is caused by an inherited modification of the individual's genome.
Modifier statisitcs
Record:
7
Gene:
7
Variant:
7
Reference:
1
Effect type:
Expressivity(7)
Modifier effect:
Risk factor(6)
,Altered severity(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TET1 | TET1:rs765147521 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
SMC5 | SMC5:c.1060G-T(p.E354*) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
POSTN | POSTN:rs200986202 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
LPA | LPA:rs758209955 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
GBP4 | GBP4:c.796G-T(p.E266*) | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
FGF20 | FGF20:rs200152641 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | PrDs may be associated with other NDs through the different gene variants found in five gCJD patients with V180I mutationmore | more |
ACO1 | ACO1:rs189305274 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | mutations that cause functional changes in ACO1 may delay PrDs progression by regulating APPmore | more |
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