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NR5A1
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
MAPT
- Supranuclear Palsy, Progressive, 1
WT1
- Primary Ovarian Insufficiency
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
FMR1
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
NFE2L2
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
ATXN3
- Machado–joseph Disease
STX6
- Supranuclear Palsy, Progressive, 1
MOBP
- Supranuclear Palsy, Progressive, 1
EIF2AK3
- Supranuclear Palsy, Progressive, 1
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
MTHFR
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Ankylosing Spondylitis
- Neural Tube Defects, Folate-Sensitive
- Cerebral Softening
NDN
- Prader–willi Syndrome