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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Sinusitis
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
MAGEL2
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
SNRPN
- 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
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
ATXN3
- Machado–joseph Disease
BCL2
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Esthesioneuroblastoma
- Uveal Melanoma
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis