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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
MAGEL2
- Prader–willi Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
GNAQ
- Uveal Melanoma
- Prader–willi Syndrome
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
SNRPN
- Prader–willi Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SPECC1L
- Opitz G/bbb Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SF3B1
- Uveal Melanoma
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
NDN
- Prader–willi Syndrome
ACE
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Primary Ovarian Insufficiency
- Synovial Sarcoma