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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
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
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BCL2
- Synovial Sarcoma
- Esthesioneuroblastoma
- Primary Ovarian Insufficiency
CARD9
- Ankylosing Spondylitis
ANO6
- Ankylosing Spondylitis