Disorder "Gynaecopathia"
Found 16 records
Disorder information
Disorder name:
Gynaecopathia
Disoder ID:
No data
Definition:
Disease occurring only in women
Modifier statisitcs
Record:
16
Gene:
12
Variant:
16
Reference:
1
Effect type:
Expressivity(16)
Modifier effect:
Risk factor(16)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CYP19A1 | CYP19A1:c.790C>T(p.Arg264Cys) | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more |
| CYP17A1 | CYP17A1:c.-34T>C | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more |
| COMT | COMT:c.472G>A(p.Val158Met) | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more |
| APOE | APOE:c.466T>C(p.Cys112Arg) | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more |
| APOE:c.604C>T(p.Arg202Cys) | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more | |
| AGT | AGT:c.803T>C(p.Met268Thr) | Expressivity | Risk factor | From review article | Homozygous mutant carriage of SNPs predisposing to an elevated risk of early postmenopausal bone loss and osteoporosis, may be a new means to individualize the counseling on risks and benefits of ERT/HRT.more | more |