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SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Sinusitis
- Poor Ovarian Reserve
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
KRT17
- Ductal Carcinoma In Situ
- Pachyonychia Congenita
- Lichen Sclerosus
NR5A1
- Primary Ovarian Insufficiency
- Poor Ovarian Reserve
- Gonadotropin-Resistant Ovary Syndrome
TTN
- Cardiomyopathy, Familial Hypertrophic, 9
LPL
- Hyperlipidemia
POMGNT1
- Muscle–eye–brain Disease
BCL2
- Synovial Sarcoma
- Ductal Carcinoma In Situ
- Primary Ovarian Insufficiency
NDN
- Prader–willi Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Pachyonychia Congenita
- Hyperlipidemia
- Gonadotropin-Resistant Ovary Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Hyperlipidemia
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Hyperlipidemia
- Lichen Sclerosus
KRT16
- Pachyonychia Congenita
LARGE1
- Muscle–eye–brain Disease