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MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
FMR1
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Sinusitis
- Primary Ovarian Insufficiency
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
POMGNT1
- Muscle–eye–brain Disease
NDN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
PRNP
- Prader–willi Syndrome
- Variant Creutzfeldt–jakob Disease
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
LARGE1
- Muscle–eye–brain Disease
SF3B1
- Uveal Melanoma
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis