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 |
|---|---|---|---|---|---|---|
| UNC13A | UNC13A:c.2473-324T>G | Expressivity | Altered survival time and Altered susceptibility | OR=1.33, 95% CI: 1.10–1.60 | The minor allele of rs12608932 in UNC13A was not only associated with susceptibility but also with shorter survival of ALS patients.more | more |
| UNC13A:c.2878C-T(p.P960S) | 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 | |
| TBK1 | TBK1:c.1007A-G(p.H336R) | 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 |
| SQSTM1 | SQSTM1:rs200973006 | 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 |
| SOD1 | SOD1:p.Ala90* | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | There is a tightly linked genetic protective factor specifically located close to the SOD1 gene in SOD1(D90A) mediated ALS.more | more |
| SOD1:p.Ala90* | Expressivity | Altered severity | Gene activity study | Mice carrying the mutant human SOD1 transgenes can greatly increase our ability to properly assess the impact and implications for the role of various genes in the development of ALSmore | more | |
| SOD1:p.Asp93* | Expressivity | Altered severity | Gene activity study | Mice carrying the mutant human SOD1 transgenes can greatly increase our ability to properly assess the impact and implications for the role of various genes in the development of ALSmore | more | |
| SOD1:p.Asp93* | Expressivity | Altered life span | Study on mouse strains | ALS genetic modifiers that increase survival of SOD1 micemore | more | |
| SOD1:p.Gly86* | Expressivity | Altered life span | Study on mouse strains | ALS genetic modifiers that increase survival of SOD1 micemore | more | |
| SOD1:p.Leu85* | Expressivity | Altered severity | Gene activity study | Mice carrying the mutant human SOD1 transgenes can greatly increase our ability to properly assess the impact and implications for the role of various genes in the development of ALSmore | more |