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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
SNRPN
- Prader–willi Syndrome
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Machado–joseph Disease
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
ATXN3
- Machado–joseph Disease
NDN
- Prader–willi Syndrome
SF3B1
- Uveal Melanoma
CARD9
- Ankylosing Spondylitis