Disorder "Dermal Atrophy"
Found 2 records
Disorder information
Disorder name:
Dermal Atrophy
Disoder ID:
Definition:
Partial or complete wasting (atrophy) of the skin.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered onset time and severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KL | KL:c.1054T>G(p.Phe352Val) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more |
| KL:c.1109G>C(p.Cys370Ser) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more |
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