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SSX1
- Synovial Sarcoma
- Ewing's Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
PNP
- Sinusitis
- Purine Nucleoside Phosphorylase Deficiency
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
PRKAR1A
- Synovial Sarcoma
- Carney Complex, Type 2
- Ewing's Sarcoma
MAGEL2
- Prader–willi Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
- Ewing's Sarcoma
SUN5
- Spermatogenic Failure 31
EWSR1
- Synovial Sarcoma
- Ewing's Sarcoma
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Ewing's Sarcoma
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Ewing's Sarcoma
RBM8A
- Tar Syndrome
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
AR
- 45,x/46,xy Mosaicism
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Ankylosing Spondylitis
- Androgen Insensitivity Syndrome
VIM
- Synovial Sarcoma
- Ankylosing Spondylitis
- Ewing's Sarcoma
NDN
- Prader–willi Syndrome