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NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Turner Syndrome
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Turner Syndrome
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Turner Syndrome
MAGEL2
- Prader–willi Syndrome
SOX9
- Xy Gonadal Dysgenesis
- Turner Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
DMRT1
- Xy Gonadal Dysgenesis
- Turner Syndrome
MAP3K1
- Xy Gonadal Dysgenesis
- Turner Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
ZFPM2
- Xy Gonadal Dysgenesis
- Turner Syndrome
AR
- Primary Ovarian Insufficiency
- Ankylosing Spondylitis
- Androgen Insensitivity Syndrome
- Prader–willi Syndrome
- Turner Syndrome
DHH
- Xy Gonadal Dysgenesis
CBX2
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Neural Tube Defect
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome