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PNP
- Purine Nucleoside Phosphorylase Deficiency
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
ESR1
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Ankylosing Spondylitis
- Estrogen Insensitivity Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
ATXN3
- Machado–joseph Disease
KRT17
- Pachyonychia Congenita
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
- Pachyonychia Congenita
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
KRT16
- Pachyonychia Congenita
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
- Estrogen Insensitivity Syndrome
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis