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NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
SNRPN
- Microdeletion Syndrome
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Edwards Syndrome
MNX1
- Currarino Syndrome
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Xyy Syndrome
AR
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Ankylosing Spondylitis
- Androgen Insensitivity Syndrome
NDN
- Prader–willi Syndrome
SHCBP1
- Synovial Sarcoma
- Ankylosing Spondylitis
VIM
- Synovial Sarcoma
- Ankylosing Spondylitis
SOX9
- Xy Gonadal Dysgenesis
DMRT1
- Xy Gonadal Dysgenesis