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PNP
- Purine Nucleoside Phosphorylase Deficiency
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
MAGEL2
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
KANSL1
- 17q21.31 Microdeletion Syndrome
HLA-B
- Foot-And-Mouth Disease
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
NDN
- Prader–willi Syndrome
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency