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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
TMEM240
- Spinocerebellar Ataxia 21
ATXN3
- Machado–joseph Disease
SS18
- Synovial Sarcoma
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
IL23R
- Ankylosing Spondylitis
- Salmonellosis
NDN
- Prader–willi Syndrome
ANTXR2
- Ankylosing Spondylitis