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NR5A1
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
WT1
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
MAGEL2
- Prader–willi Syndrome
IL2RA
- Ankylosing Spondylitis
- Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
SNRPN
- Prader–willi Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
TALDO1
- Transaldolase Deficiency
ATXN3
- Machado–joseph Disease
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
SS18
- Synovial Sarcoma
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis