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SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
BRAF
- Prader–willi Syndrome
- Thyroid Carcinoma, Hurthle Cell
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
BCL2
- Synovial Sarcoma
- Thyroid Carcinoma, Hurthle Cell
- Primary Ovarian Insufficiency
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Sinusitis
RHBDF2
- Howel–evans Syndrome
NKX2-1
- Thyroid Carcinoma, Hurthle Cell
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Thyroid Carcinoma, Hurthle Cell
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Pachyonychia Congenita
- Seborrhoeic Dermatitis
NDN
- Prader–willi Syndrome
KRT17
- Pachyonychia Congenita
KRAS
- Prader–willi Syndrome
- Thyroid Carcinoma, Hurthle Cell
RET
- Thyroid Carcinoma, Hurthle Cell
- Primary Ovarian Insufficiency
VIM
- Synovial Sarcoma
- Thyroid Carcinoma, Hurthle Cell
CCDC6
- Thyroid Carcinoma, Hurthle Cell
WT1
- Primary Ovarian Insufficiency
- Rubella
- Gonadotropin-Resistant Ovary Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome