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NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
MAGEL2
- Prader–willi Syndrome
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
SCN8A
- Epilepsy
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNAQ
- Prader–willi Syndrome
- Epilepsy
- Uveal Melanoma
FMR1
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Epilepsy
- Primary Ovarian Insufficiency
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
TINF2
- Revesz Syndrome
SS18
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Epilepsy
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Epilepsy
- Primary Ovarian Insufficiency
NDN
- Prader–willi Syndrome
GRIN2B
- Epilepsy
ABCB1
- Synovial Sarcoma
- Epilepsy
- Uveal Melanoma
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SLC12A5
- Epilepsy