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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Monosomy
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
CARD9
- Ankylosing Spondylitis