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MAGEL2
- Prader–willi Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Gynecomastia
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Gynecomastia
SNRPN
- Prader–willi Syndrome
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
ATXN3
- Machado–joseph Disease
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Gynecomastia
NFE2L2
- Machado–joseph Disease
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
FREM1
- Trigonocephaly
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
NDN
- Prader–willi Syndrome
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
SF3B1
- Uveal Melanoma
P2RX2
- Deafness, Autosomal Dominant 41