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MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Down Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Down Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Down Syndrome
NDN
- Prader–willi Syndrome
PRNP
- Prader–willi Syndrome
- Down Syndrome
- Variant Creutzfeldt–jakob Disease
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Down Syndrome
BCL2
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Esthesioneuroblastoma
- Down Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency