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NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
MAGEL2
- Prader–willi Syndrome
PNP
- Sinusitis
- Purine Nucleoside Phosphorylase Deficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
BRAF
- Prader–willi Syndrome
- Thyroid Carcinoma, Hurthle Cell
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Sinusitis
- Primary Ovarian Insufficiency
FKRP
- Walker–warburg Syndrome
SS18
- Synovial Sarcoma
NKX2-1
- Esthesioneuroblastoma
- Thyroid Carcinoma, Hurthle Cell
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Thyroid Carcinoma, Hurthle Cell
- Primary Ovarian Insufficiency
POMGNT1
- Walker–warburg Syndrome
DAG1
- Prader–willi Syndrome
- Walker–warburg Syndrome
NDN
- Prader–willi Syndrome
POMT1
- Walker–warburg Syndrome
FKTN
- Walker–warburg Syndrome
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency