Disorder "Myopathy"
Found 6 records
Disorder information
Disorder name:
Myopathy
Disoder ID:
Definition:
Chronic muscle inflammation accompanied by muscle weakness.
Modifier statisitcs
Record:
6
Gene:
2
Variant:
5
Reference:
1
Effect type:
Expressivity(6)
Modifier effect:
Altered susceptibility(6)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TNFRSF1A | TNFRSF1A:p.Cys43Arg | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more |
| MEFV | MEFV:c.1105C>T(p.Pro369Ser) | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more |
| MEFV:c.605G>A(p.Arg202Gln) | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more | |
| MEFV:c.910G>A(p.Gly304Arg) | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more | |
| MEFV:c.442G>C(p.Glu148Gln) | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more | |
| MEFV:c.442G>C(p.Glu148Gln) | Expressivity | Altered susceptibility | Assessment of genotype–phenotype associations | These results suggest that MEFV gene polymorphisms and TNFRSF1A mutation are susceptibility and modifier genes in IMAM.more | more |
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