Disorder "Amyotrophic Lateral Sclerosis"
Found 36 records
Disorder information
Disorder name:
Amyotrophic Lateral Sclerosis
Disoder ID:
OMIM entry:
Synonyms:
ALS,Lou Gehrig's disease,motor neuron disease, bulbar
Definition:
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Modifier statisitcs
Record:
36
Gene:
15
Variant:
32
Reference:
8
Effect type:
Expressivity(35)
,Penetrance(1)
Modifier effect:
Risk of respiratory failure or death(20)
,Risk factor(5)
,Altered life span(4)
,Altered severity(4)
,Altered incidence(1)
,Altered onset time(1)
,Altered survival time and Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| P4HB | P4HB:c.624+2555T>C | Expressivity | Risk factor | P=0.0046 | P4HB is a modifier gene in ALS susceptibility and may represent a potential therapeutic target for ALS.more | more |
| P4HB:c.855+102T>C | Expressivity | Risk factor | P=0.0198 | P4HB is a modifier gene in ALS susceptibility and may represent a potential therapeutic target for ALS.more | more | |
| NEK1 | NEK1:rs35222922 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| NEK1:rs755724871 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more | |
| ITPR2 | ITPR2:rs369918783 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| ITPR2:rs780802181 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more | |
| DCTN1 | DCTN1:rs113980038 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| DCTN1:rs756392974 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more | |
| DAO | DAO:c.806C-T(p.T269I) | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| DAO:rs200127576 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |