Disorder "Parkinsonism"
Found 6 records
Disorder information
Disorder name:
Parkinsonism
Disoder ID:
Definition:
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Modifier statisitcs
Record:
6
Gene:
6
Variant:
6
Reference:
4
Effect type:
Expressivity(6)
Modifier effect:
Altered onset time(3)
,Risk factor(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PRKN | PRKN:c.1138G>C(p.Val380Leu) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier.more | more |
| PDXK | PDXK:c.622+118G>A | Expressivity | Risk factor | P=1.2×10(-7), OR=1.3; 95% CI: 1.18-1.44 | A DNA variant (rs2010795) in PDXK associated with an increased risk of PD in the German cohortmore | more |
| LRRK2 | LRRK2:c.7153G>A(p.Gly2385Arg) | Expressivity | Altered onset time | OR=3.760, 95% CI: (2.113–6.689), p <0.0001 | LRRK2 p.G2385R variant and BDNF p.V66M significantly increased the risk of PD.more | more |
| Haplotype | Haplotype:(LRRK2:c.7153G>A(p.Gly2385Arg),BDNF:p.V66M) | Expressivity | Risk factor | OR=4.033; 95% CI: 2.188–7.435; p<0.0001 | Carriers of the risk A variant for both LRRK2 and BDNF had a significantly higher risk for PD than persons with neither (OR=4.033; 95% CI: 2.188–7.435; p < 0.0001),more | more |
| DBH | DBH:c.-1021C>T | Expressivity | Risk factor | Assessment of genotype–phenotype associations | DBH -1021C-->T as a risk factor or age at onset modifier in PD.more | more |
| BDNF | BDNF:c.283G>A(p.Val95Met) | Expressivity | Altered onset time | OR=1.498, 95% CI: (1.026–2.187), P<0.036 | LRRK2 p.G2385R variant and BDNF p.V67M significantly increased the risk of PD.more | more |
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