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 |
|---|---|---|---|---|---|---|
| SRD5A2 | SRD5A2:c.264C>G(p.Vla89Leu) | 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 |
| SERPINE1 | SERPINE1:c.5G>4G | 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 |
| NOS3 | NOS3:c.786T>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 |
| NOS3:p.Glu298Asn | 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 | |
| MTHFR | MTHFR:c.665C>T(p.Ala222Val) | 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 |
| HSD17B1 | HSD17B1:c.27A>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 |
| F2 | F2:c.2021G>A | 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 |
| CYP1A1 | CYP1A1:c.1384A>G(p.Ile462Val) | 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 |
| CYP1A1:c.6235T>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 | |
| CYP19A1 | CYP19A1:c.1558C>T | 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 |