Disorder "Arthrogryposis syndrome"
Found 3 records
Disorder information
Disorder name:
Arthrogryposis syndrome
Disoder ID:
Definition:
Arthrogryposis?multiplex congenita (AMC), or simplyarthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally?meaningcurving of joints (arthron, joint; gr?pōsis, late Latin form of late Greek grūpōsis, hooking).
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Risk factor(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| POLR3A | POLR3A:rs199581222 | Expressivity | Risk factor | Pedigree analysis | Contribute to disease expressionmore | more |
| ERCC2 | ERCC2:rs147224585 | Expressivity | Risk factor | Pedigree analysis | Contribute to disease expressionmore | more |
| BICD2 | BICD2:rs146113445 | Expressivity | Risk factor | Pedigree analysis | Contribute to disease expressionmore | more |
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