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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
- Tongue Thrust
IL2RA
- Ankylosing Spondylitis
- Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
SNRPN
- Prader–willi Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
ATXN3
- Machado–joseph Disease
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Machado–joseph Disease
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
HLA-B
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
CARD9
- Ankylosing Spondylitis