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TP53
- Synovial Sarcoma
- Li-Fraumeni Syndrome
- Trophoblastic Neoplasm
PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
- Tongue Thrust
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
SS18
- Synovial Sarcoma
PRRT2
- Severe Acute Respiratory Syndrome
- Infantile Convulsions And Choreoathetosis
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
CHEK2
- Li-Fraumeni Syndrome
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Li-Fraumeni Syndrome
- Primary Ovarian Insufficiency
NDN
- Prader–willi Syndrome
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
BCL2
- Synovial Sarcoma
- Li-Fraumeni Syndrome
- Primary Ovarian Insufficiency
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis