Disorder "Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions"
Found 3 records
Disorder information
Disorder name:
Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions
Disoder ID:
OMIM entry:
Definition:
A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
Modifier statisitcs
Record:
3
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered plasma progranulin levels(1)
,Altered GRN plasma expression(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TMEM106B | TMEM106B | Expressivity | Risk factor | From review article | Confer slightly increased risk of FTLDmore | more |
| CELSR2 | SORT1:c.*1859C>T | Expressivity | Altered plasma progranulin levels | From review article | The rs646776 SNP near SORT1, previously linked to SORT1 expression levels as an expression quantitative trait locus (eQTL), has also been reported to associate with plasma progranulin levelsmore | more |
| SORT1:c.*1859C>T | Expressivity | Altered GRN plasma expression | From review article | rs646776 C allele associated with decreased GRN plasma expressionmore | more |
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