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FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
GNAQ
- Uveal Melanoma
- Prader–willi Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
SNRPN
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
SS18
- Synovial Sarcoma