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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Sinusitis
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NDN
- Prader–willi Syndrome
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
BCL2
- Synovial Sarcoma
- Esthesioneuroblastoma
- Primary Ovarian Insufficiency
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
VIM
- Synovial Sarcoma
- Monosomy
- Ankylosing Spondylitis
SHCBP1
- Synovial Sarcoma
- Ankylosing Spondylitis