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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
NDN
- Prader–willi Syndrome
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
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SF3B1
- Uveal Melanoma
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Ankylosing Spondylitis
- Primary Ovarian Insufficiency