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SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
LMOD3
- Nemaline Myopathy 10
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
CDKN1B
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Multiple Endocrine Neoplasia, Type Iv
ALDH7A1
- Pyridoxine-Dependent Epilepsy
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Rubella
NFE2L2
- Primary Ovarian Insufficiency
- Machado–joseph Disease
- Gonadotropin-Resistant Ovary Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
ATXN3
- Machado–joseph Disease
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
AP5Z1
- Spastic Paraplegia 48, Autosomal Recessive
RSPH1
- Ciliary Dyskinesia, Primary, 24
CRH
- Cushing's Disease