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SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
MAGEL2
- Prader–willi Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis
HLA-B
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BCL2
- Synovial Sarcoma
- Esthesioneuroblastoma
- Primary Ovarian Insufficiency
CARD9
- Ankylosing Spondylitis