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SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SCN8A
- Epilepsy
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
- Epilepsy
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
- Uveal Melanoma
- Epilepsy
NDN
- Prader–willi Syndrome
ABCB1
- Synovial Sarcoma
- Uveal Melanoma
- Epilepsy
- Ankylosing Spondylitis
GRIN2B
- Epilepsy
HLA-B
- Severe Acute Respiratory Syndrome
- Epilepsy
- Ankylosing Spondylitis
SF3B1
- Uveal Melanoma
SLC12A5
- Epilepsy
PCDH19
- Epilepsy
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Triple X Syndrome