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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
MAGEL2
- Prader–willi Syndrome
SMAD3
- Ankylosing Spondylitis
- Loeys-Dietz Syndrome 3
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
GNAQ
- Uveal Melanoma
- Prader–willi Syndrome
DNAAF4
- Ciliary Dyskinesia, Primary, 25
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
KCNJ2
- Atrial Fibrillation, Familial, 9
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
HLA-B
- Ankylosing Spondylitis
- Foot-And-Mouth Disease
- Severe Acute Respiratory Syndrome
SF3B1
- Uveal Melanoma
SS18
- Synovial Sarcoma