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PNP
- Purine Nucleoside Phosphorylase Deficiency
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
MAPT
- Supranuclear Palsy, Progressive, 1
MAGEL2
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
SNRPN
- Prader–willi Syndrome
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
FMR1
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
NFE2L2
- Supranuclear Palsy, Progressive, 1
- Machado–joseph Disease
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SF3B1
- Supranuclear Palsy, Progressive, 1
- Uveal Melanoma