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 |
|---|---|---|---|---|---|---|
| ATXN2 | ATXN2:rs201755263 | 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 |
| ARHGEF28 | ARHGEF28:rs369597044 | 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 |
| ARHGEF28:rs763687499 | 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 | |
| ARHGEF28:rs910577863 | 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 | |
| APEX1 | APEX1:rs200702900 | 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 |
| ANG | ANG:rs565444731 | Expressivity | Risk factor | Pedigree analysis | Clinical course of SOD1-related ALS may be modulated by ANGmore | more |