Disorder "Neurodegeneration"
Found 3 records
Disorder information
Disorder name:
Neurodegeneration
Disoder ID:
Synonyms:
Ongoing loss of nerve cells
Definition:
Progressive loss of neural cells and tissue.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
3
Effect type:
Expressivity(2)
,Penetrance(1)
Modifier effect:
Altered onset time(2)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TMEM106B | TMEM106B:n.12283787A>G | Expressivity | Altered onset time | P=0.024 | TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.more | more |
| SOD1 | SOD1:p.Phe46* | Expressivity | Altered onset time | Study on animal models | The H46R mutation in the human Cu/Zn superoxide dismutase (SOD1) gene sustained motor functions and delayed disease progressionmore | more |
| PARK7 | PARK7:p.Lys130* | Penetrance | Altered incidence | Gene activity study | Fails to repress p53 transcriptional activity and loses its protective function against ultraviolet induced cell deathmore | more |
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