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TP53
- Synovial Sarcoma
- Li-Fraumeni Syndrome
- Liver Cancer
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Li-Fraumeni Syndrome
- Primary Ovarian Insufficiency
- Phakomatosis
- Liver Cancer
PNP
- Purine Nucleoside Phosphorylase Deficiency
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Liver Cancer
CDKN2A
- Synovial Sarcoma
- Li-Fraumeni Syndrome
- Ankylosing Spondylitis
- Liver Cancer
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Liver Cancer
- Pachyonychia Congenita
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SOX9
- Xy Gonadal Dysgenesis
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
SS18
- Synovial Sarcoma
DHH
- Xy Gonadal Dysgenesis
SNRPN
- Prader–willi Syndrome
CBX2
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome