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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
ELP1
- Familial Dysautonomia
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
NDN
- Prader–willi Syndrome
SF3B1
- Uveal Melanoma