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NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Huntington's Disease
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Down Syndrome
- Gonadotropin-Resistant Ovary Syndrome
MAPT
- Supranuclear Palsy, Progressive, 1
- Down Syndrome
- Huntington's Disease
MAGEL2
- Prader–willi Syndrome
NFE2L2
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
- Down Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Huntington's Disease
MTHFR
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Ankylosing Spondylitis
- Down Syndrome
- Neural Tube Defects, Folate-Sensitive
- Cerebral Softening
- Huntington's Disease
HTT
- Huntington's Disease
SNRPN
- Prader–willi Syndrome
FMR1
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Down Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Huntington's Disease
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
BCL2
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Down Syndrome
- Huntington's Disease
RCAN1
- Down Syndrome
- Huntington's Disease
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SOD1
- Supranuclear Palsy, Progressive, 1
- Down Syndrome
- Huntington's Disease
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Down Syndrome
STX6
- Supranuclear Palsy, Progressive, 1