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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Down Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
PNP
- Purine Nucleoside Phosphorylase Deficiency
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SS18
- Synovial Sarcoma
FGFR2
- Synovial Sarcoma
- Acrocephalosyndactylia
SETX
- Primary Ovarian Insufficiency
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Down Syndrome
BCL2
- Synovial Sarcoma
- Uveal Melanoma
- Primary Ovarian Insufficiency
- Down Syndrome
SCN10A
- Uveal Melanoma
- Episodic Pain Syndrome, Familial, 2
SF3B1
- Uveal Melanoma
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
CYSLTR2
- Uveal Melanoma
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Down Syndrome