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PNP
- Purine Nucleoside Phosphorylase Deficiency
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
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
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SS18
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
BCL2
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Esthesioneuroblastoma
- Uveal Melanoma