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GNAQ
- Uveal Melanoma
- Prader–willi Syndrome
- Melanoma, Uveal
GNA11
- Uveal Melanoma
- Melanoma, Uveal
BAP1
- Uveal Melanoma
- Melanoma, Uveal
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SF3B1
- Uveal Melanoma
- Melanoma, Uveal
PNP
- Purine Nucleoside Phosphorylase Deficiency
CYSLTR2
- Uveal Melanoma
- Melanoma, Uveal
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Uveal Melanoma
- Primary Ovarian Insufficiency
- Melanoma, Uveal
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis